产品简要
公司名称 :
MyBioSource
产品类型 :
蛋白
产品名称 :
重组人类斯里兰卡肉桂咸受体1
目录 :
MBS962209
规格 :
0.05毫克(大肠杆菌)
价格 :
185美元
更多信息或购买 :
产品信息
目录号 :
MBS962209
产品类型 :
重组蛋白
产品全称 :
重组人类斯里兰卡肉桂咸受体1
产品简称 :
斯里兰卡肉桂咸受体1
产品名称同义词 :
Skeletal muscle calcium release channel; Skeletal muscle ryanodine receptor; Skeletal muscle-type ryanodine receptor; Type 1 ryanodine receptor
其他名称 :
ryanodine receptor 1 isoform 1; Ryanodine receptor 1; Skeletal muscle calcium release channel; Skeletal muscle ryanodine receptor; Skeletal muscle-type ryanodine receptor; Type 1 ryanodine receptor
产品基因名称 :
RYR1
产品基因名称同义词 :
RYDR
其他基因名称 :
RYR1;RYDR;RYR-1;RyR1
UniProt数据库进入名 :
RYR1_HUMAN
宿主 :
E Coli or Yeast or Baculovirus or Mammalian Cell
序列位置 :
1-534
序列长度 :
5038
序列 :
MGDAEGEDEVQFLRTDDEVVLQCSATVLKEQLKLCLAAE
GFGNRLCFLEPTSNAQNVPPDLAICCFVLEQSLSVRALQ
EMLANTVEAGVESSQGGGHRTLLYGHAILLRHAHSRMYL
SCLTTSRSMTDKLAFDVGLQEDATGEACWWTMHPASKQR
SEGEKVRVGDDIILVSVSSERYLHLSTASGELQVDASFM
QTLWNMNPICSRCEEGFVTGGHVLRLFHGHMDECLTISP
ADSDDQRRLVYYEGGAVCTHA
纯度 :
Greater than 90% as determined by SDS-PAGE.
形式 :
Liquid containing glycerol; lyophilization may be available upon request.
储存稳定性 :
Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.
产品种类 :
Transport
产品描述 :
Calcium channel that mediates the release of Ca2+ from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules. Repeated very high-level exercise increases the open probability of the channel and leads to Ca2+ leaking into the cytoplasm. Can also mediate the release of Ca2+ from intracellular stores in neurons, and may thereby promote prolonged Ca2+ signaling in the brain. Required for normal embryonic development of muscle fibers and skeletal muscle. Required for normal heart morphogenesis, skin development and ossification during embryogenesis.
产品引用 :
Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum.Zorzato F., Fujii J., Otsu K., Phillips M.S., Green N.M., Lai F.A., Meissner G., Maclennan D.H.J. Biol. Chem. 265:2244-2256(1990) Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia.Gillard E.F., Otsu K., Fujii J., Duff C.L., de Leon S., Khanna V.K., Britt B.A., Worton R.G., McLennan D.H.Genomics 13:1247-1254(1992) A mutation in the human ryanodine receptor gene associated with central core disease.Zhang Y., Chen H.S., Khanna V.K., de Leon S., Phillips M.S., Schappert K.T., Britt B.A., Brownell A.K.W., McLennan D.H.Nat. Genet. 5:46-50(1993) The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene.Phillips M.S., Fujii J., Khanna V.K., de Leon S., Yokobata K., de Jong P.J., McLennan D.H.Genomics 34:24-41(1996) The DNA sequence and biology of human chromosome 19.Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.Nature 428:529-535(2004) Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia.Otsu K., Phillips M.S., Khanna V.K., de Leon S., McLennan D.H.Genomics 13:835-837(1992) A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.Gillard E.F., Otsu K., Fujii J., Khanna V.K., de Leon S., Derdemezi J., Britt B.A., Duff C.L., Worton R.G., MacLennan D.H.Genomics 11:751-755(1991) Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility.Moroni I., Gonano E.F., Comi G.P., Tegazzin V., Prelle A., Bordoni A., Bresolin N., Scarlato G.J. Neurol. 242:127-133(1995) Isolation and partial cloning of ryanodine-sensitive Ca2+ release channel protein isoforms from human myometrial smooth muscle.Lynn S., Morgan J.M., Lamb H.K., Meissner G., Gillespie J.I.FEBS Lett. 372:6-12(1995) Partial cloning and differential expression of ryanodine receptor/calcium-release channel genes in human tissues including the hippocampus and cerebellum.Martin C., Chapman K.E., Seckl J.R., Ashley R.H.Neuroscience 85:205-216(1998) Cysteine-3635 is responsible for skeletal muscle ryanodine receptor modulation by NO.Sun J., Xin C., Eu J.P., Stamler J.S., Meissner G.Proc. Natl. Acad. Sci. U.S.A. 98:11158-11162(2001) S100A1 and calmodulin compete for the same binding site on ryanodine receptor.Wright N.T., Prosser B.L., Varney K.M., Zimmer D.B., Schneider M.F., Weber D.J.J. Biol. Chem. 283:26676-26683(2008) Remodeling of ryanodine receptor complex causes 'leaky' channels a molecular mechanism for decreased exercise capacity.Bellinger A.M., Reiken S., Dura M., Murphy P.W., Deng S.X., Landry D.W., Nieman D., Lehnart S.E., Samaru M., LaCampagne A., Marks A.R.Proc. Natl. Acad. Sci. U.S.A. 105:2198-2202(2008) Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography.Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D., Zou H., Gu J.Proteomics 8:1346-1361(2008) Ryanodine receptors structure, expression, molecular details, and function in calcium release.Lanner J.T., Georgiou D.K., Joshi A.D., Hamilton S.L.Cold Spring Harb. Perspect. Biol. 2:E3996-E3996(2010) Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation.Bohm J., Leshinsky-Silver E., Vassilopoulos S., Le Gras S., Lerman-Sagie T., Ginzberg M., Jost B., Lev D., Laporte J.Acta Neuropathol. 124:575-581(2012) Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.Quane K.A., Healy J.M.S., Keating K.E., Manning B.M., Couch F.J., Palmucci L.M., Doriguzzi C., Fagerlund T.H., Berg K., Ording H., Bendixen D., Mortier W., Linz U., Muller C.R., McCarthy T.V.Nat. Genet. 5:51-55(1993) Mutation screening of the RYR1 gene in malignant hyperthermia detection of a novel Tyr to Ser mutation in a pedigree with associated central cores.Quane K.A., Keating K.E., Healy J.M.S., Manning B.M., Krivosic-Horber R., Krivosic I., Monnier N., Lunardi J., McCarthy T.V.Genomics 23:236-239(1994) Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia implications for diagnosis and heterogeneity studies.Quane K.A., Keating K.E., Manning B.M., Healy J.M.S., Monsieurs K., Heffron J.J.A., Lehane M., Heytens L., Krivosic-Horber R., Adnet P., Ellis F.R., Monnier N., Lunardi J., McCarthy T.V.Hum. Mol. Genet. 3:471-476(1994) Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees.Keating K.E., Quane K.A., Manning B.M., Lehane M., Hartung E., Censier K., Urwyler A., Klausnitzer M., Muller C.R., Heffron J.J.A., McCarthy T.V.Hum. Mol. Genet. 3:1855-1858(1994) The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia.Phillips M.S., Khanna V.K., de Leon S., Frodis W., Britt B.A., McLennan D.H.Hum. Mol. Genet. 3:2181-2186(1994) Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred.Lynch P.J., Krivosic-Horber R., Reyford H., Monnier N., Quane K.A., Adnet P., Haudecoeur G., Krivosic I., McCarthy T.V., Lunardi J.Anesthesiology 86:620-626(1997) Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia.Quane K.A., Ording H., Keating K.E., Manning B.M., Heine R., Bendixen D., Berg K., Krivosic-Horber R., Lehmann-Horn F., Fagerlund T.H., McCarthy T.V.Br. J. Anaesth. 79:332-337(1997) Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree correlation of the IVCT response with the affected and unaffected haplotypes.Keating K.E., Giblin L., Lynch P.J., Quane K.A., Lehane M., Heffron J.J.A., McCarthy T.V.J. Med. Genet. 34:291-296(1997) Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia genotype-phenotype correlation.Manning B.M., Quane K.A., Ording H., Urwyler A., Tegazzin V., Lehane M., O'Halloran J., Hartung E., Giblin L.M., Lynch P.J., Vaughan P., Censier K., Bendixen D., Comi G.P., Heytens L., Monsieurs K., Fagerlund T.H., Wolz W., Heffron J.J.A., Mueller C.R., McCarthy T.V.Am. J. Hum. Genet. 62:599-609(1998) Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia.Manning B.M., Quane K.A., Lynch P.J., Urwyler A., Tegazzin V., Krivosic-Horber R., Censier K., Comi G.P., Adnet P., Wolz W., Lunardi J., Muller C.R., McCarthy T.V.3.3.CO;2-H>Hum. Mutat. 11:45-50(1998) Screening of the ryanodine receptor gene in 105 malignant hyperthermia families novel mutations and concordance with the in vitro contracture test.Brandt A., Schleithoff L., Jurkat-Rott K., Klingler W., Baur C., Lehmann-Horn F.Hum. Mol. Genet. 8:2055-2062(1999) Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families.Barone V., Massa O., Intravaia E., Bracco A., Di Martino A., Tegazzin V., Cozzolino S., Sorrentino V.J. Med. Genet. 36:115-118(1999) A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca(2+) release channel function and severe central core disease.Lynch P.J., Tong J., Lehane M., Mallet A., Giblin L., Heffron J.J.A., Vaughan P., Zafra G., MacLennan D.H., McCarthy T.V.Proc. Natl. Acad. Sci. U.S.A. 96:4164-4169(1999) Malignant hyperthermia in infancy and identification of novel RYR1 mutation.Chamley D., Pollock N.A., Stowell K.M., Brown R.L.Br. J. Anaesth. 84:500-504(2000) A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree.Brown R.L., Pollock A.N., Couchman K.G., Hodges M., Hutchinson D.O., Waaka R., Lynch P., McCarthy T.V., Stowell K.M.Hum. Mol. Genet. 9:1515-1524(2000) Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia.Gencik M., Gencik A., Mortier W., Epplen J.T.3.0.CO;2-A>Hum. Mutat. 15:122-122(2000) A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy.Scacheri P.C., Hoffman E.P., Fratkin J.D., Semino-Mora C., Senchak A., Davis M.R., Laing N.G., Vedanarayanan V., Subramony S.H.Neurology 55:1689-1696(2000) Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype.Sambuughin N., McWilliams S., de Bantel A., Sivakumar K., Nelson T.E.Am. J. Hum. Genet. 69:204-208(2001) North American malignant hyperthermia population screening of the ryanodine receptor gene and identification of novel mutations.Sambuughin N., Sei Y., Gallagher K.L., Wyre H.W., Madsen D., Nelson T.E., Fletcher J.E., Rosenberg H., Muldoon S.M.Anesthesiology 95:594-599(2001) Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.Monnier N., Romero N.B., Lerale J., Landrieu P., Nivoche Y., Fardeau M., Lunardi J.Hum. Mol. Genet. 10:2581-2592(2001) Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1 association with central core disease and alteration of calcium homeostasis.Tilgen N., Zorzato F., Halliger-Keller B., Muntoni F., Sewry C., Palmucci L.M., Schneider C., Hauser E., Lehmann-Horn F., Mueller C.R., Treves S.Hum. Mol. Genet. 10:2879-2887(2001) Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia.Rueffert H., Kraus H., Olthoff D., Deutrich C., Froster U.G.Hum. Mutat. 17:238-238(2001) Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families.Sambuughin N., Nelson T.E., Jankovic J., Xin C., Meissner G., Mullakandov M., Ji J., Rosenberg H., Sivakumar K., Goldfarb L.G.Neuromuscul. Disord. 11:530-537(2001) Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results identification of three novel mutations.Rueffert H., Olthoff D., Deutrich C., Meinecke C.D., Froster U.G.Acta Anaesthesiol. Scand. 46:692-698(2002) Presence of two different genetic traits in malignant hyperthermia families implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility.Monnier N., Krivosic-Horber R., Payen J.-F., Kozak-Ribbens G., Nivoche Y., Adnet P., Reyford H., Lunardi J.Anesthesiology 97:1067-1074(2002) A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.Ferreiro A., Monnier N., Romero N.B., Leroy J.-P., Boennemann C., Haenggeli C.-A., Straub V., Voss W.D., Nivoche Y., Jungbluth H., Lemainque A., Voit T., Lunardi J., Fardeau M., Guicheney P.Ann. Neurol. 51:750-759(2002) Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees.Davis M., Brown R., Dickson A., Horton H., James D., Laing N., Marston R., Norgate M., Perlman D., Pollock N., Stowell K.Br. J. Anaesth. 88:508-515(2002) Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia evidence for a cluster of novel mutations in the C-terminal region.Galli L., Orrico A., Cozzolino S., Pietrini V., Tegazzin V., Sorrentino V.Cell Calcium 32:143-151(2002) Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.McWilliams S., Nelson T., Sudo R.T., Zapata-Sudo G., Batti M., Sambuughin N.Clin. Genet. 62:80-83(2002) Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia patients.Oyamada H., Oguchi K., Saitoh N., Yamazawa T., Hirose K., Kawana Y., Wakatsuki K., Oguchi K., Tagami M., Hanaoka K., Endo M., Iino M.Jpn. J. Pharmacol. 88:159-166(2002) Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.Jungbluth H., Muller C.R., Halliger-Keller B., Brockington M., Brown S.C., Feng L., Chattopadhyay A., Mercuri E., Manzur A.Y., Ferreiro A., Laing N.G., Davis M.R., Roper H.P., Dubowitz V., Bydder G., Sewry C.A., Muntoni F.Neurology 59:284-287(2002) Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript.Loke J.C.P., Kraev N., Sharma P., Du G., Patel L., Kraev A., MacLennan D.H.Anesthesiology 99:297-302(2003) Central core disease clinical, pathological, and genetic features.Quinlivan R.M., Muller C.R., Davis M., Laing N.G., Evans G.A., Dwyer J., Dove J., Roberts A.P., Sewry C.A.Arch. Dis. Child. 88:1051-1055(2003) Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.Romero N.B., Monnier N., Viollet L., Cortey A., Chevallay M., Leroy J.P., Lunardi J., Fardeau M.Brain 126:2341-2349(2003) Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC detection of three novel malignant hyperthermia alleles.Tammaro A., Bracco A., Cozzolino S., Esposito M., Di Martino A., Savoia G., Zeuli L., Piluso G., Aurino S., Nigro V.Clin. Chem. 49:761-768(2003) Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor.Zorzato F., Yamaguchi N., Xu L., Meissner G., Mueller C.R., Pouliquin P., Muntoni F., Sewry C., Girard T., Treves S.Hum. Mol. Genet. 12:379-388(2003) A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.Monnier N., Ferreiro A., Marty I., Labarre-Vila A., Mezin P., Lunardi J.Hum. Mol. Genet. 12:1171-1178(2003) Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.Davis M.R., Haan E., Jungbluth H., Sewry C., North K., Muntoni F., Kuntzer T., Lamont P., Bankier A., Tomlinson P., Sanchez A., Walsh P., Nagarajan L., Oley C., Colley A., Gedeon A., Quinlivan R., Dixon J., James D., Mueller C.R., Laing N.G.Neuromuscul. Disord. 13:151-157(2003) Malignant hyperthermia in North America genetic screening of the three hot spots in the type I ryanodine receptor gene.Sei Y., Sambuughin N.N., Davis E.J., Sachs D., Cuenca P.B., Brandom B.W., Tautz T., Rosenberg H., Nelson T.E., Muldoon S.M.Anesthesiology 101:824-830(2004) Multiminicore disease in a family susceptible to malignant hyperthermia histology, in vitro contracture tests, and genetic characterization.Guis S., Figarella-Branger D., Monnier N., Bendahan D., Kozak-Ribbens G., Mattei J.-P., Lunardi J., Cozzone P.J., Pellissier J.-F.Arch. Neurol. 61:106-113(2004) RYR1 mutations in UK central core disease patients more than just the C-terminal transmembrane region of the RYR1 gene.Shepherd S., Ellis F., Halsall J., Hopkins P., Robinson R.J. Med. Genet. 41:E33-E33(2004) Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia.Marchant C.L., Ellis F.R., Halsall P.J., Hopkins P.M., Robinson R.L.Muscle Nerve 30:114-117(2004) Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.Monnier N., Kozak-Ribbens G., Krivosic-Horber R., Nivoche Y., Qi D., Kraev N., Loke J., Sharma P., Tegazzin V., Figarella-Branger D., Romero N., Mezin P., Bendahan D., Payen J.-F., Depret T., Maclennan D.H., Lunardi J.Hum. Mutat. 26:413-425(2005) Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.Jungbluth H., Zhou H., Hartley L., Halliger-Keller B., Messina S., Longman C., Brockington M., Robb S.A., Straub V., Voit T., Swash M., Ferreiro A., Bydder G., Sewry C.A., Mueller C., Muntoni F.Neurology 65:1930-1935(2005) Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1.Gambelli S., Malandrini A., Berti G., Gaudiano C., Zicari E., Brunori P., Perticoni G., Orrico A., Galli L., Sorrentino V., Lunardi J., Federico A., Dotti M.T.Clin. Genet. 71:93-94(2007) Central core disease due to recessive mutations in RYR1 gene is it more common than described?Kossugue P.M., Paim J.F., Navarro M.M., Silva H.C., Pavanello R.C.M., Gurgel-Giannetti J., Zatz M., Vainzof M.Muscle Nerve 35:670-674(2007) Novel RYR1 missense mutation causes core rod myopathy.von der Hagen M., Kress W., Hahn G., Brocke K.S., Mitzscherling P., Huebner A., Muller-Reible C., Stoltenburg-Didinger G., Kaindl A.M.Eur. J. Neurol. 15:E31-E32(2008) Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.Monnier N., Marty I., Faure J., Castiglioni C., Desnuelle C., Sacconi S., Estournet B., Ferreiro A., Romero N., Laquerriere A., Lazaro L., Martin J.-J., Morava E., Rossi A., Van der Kooi A., de Visser M., Verschuuren C., Lunardi J.Hum. Mutat. 29:670-678(2008) Increasing the number of diagnostic mutations in malignant hyperthermia.Levano S., Vukcevic M., Singer M., Matter A., Treves S., Urwyler A., Girard T.Hum. Mutat. 30:590-598(2009) Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease.Vukcevic M., Broman M., Islander G., Bodelsson M., Ranklev-Twetman E., Muller C.R., Treves S.Anesth. Analg. 111:185-190(2010) Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.Clarke N.F., Waddell L.B., Cooper S.T., Perry M., Smith R.L.L., Kornberg A.J., Muntoni F., Lillis S., Straub V., Bushby K., Guglieri M., King M.D., Farrell M.A., Marty I., Lunardi J., Monnier N., North K.N.Hum. Mutat. 31:E1544-E1550(2010) Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families.Tammaro A., Di Martino A., Bracco A., Cozzolino S., Savoia G., Andria B., Cannavo A., Spagnuolo M., Piluso G., Aurino S., Nigro V.Clin. Genet. 79:438-447(2011) Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.Duarte S.T., Oliveira J., Santos R., Pereira P., Barroso C., Conceicao I., Evangelista T.Muscle Nerve 44:102-108(2011) Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families.Kim J.H., Jarvik G.P., Browning B.L., Rajagopalan R., Gordon A.S., Rieder M.J., Robertson P.D., Nickerson D.A., Fisher N.A., Hopkins P.M.Anesthesiology 119:1054-1065(2013) Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.Brandom B.W., Bina S., Wong C.A., Wallace T., Visoiu M., Isackson P.J., Vladutiu G.D., Sambuughin N., Muldoon S.M.Anesth. Analg. 116:1078-1086(2013) Novel RYR1 missense mutations in six Chinese patients with central core disease.Gu M., Zhang S., Hu J., Yuan Y., Wang Z., Da Y., Wu S.Neurosci. Lett. 566:32-35(2014) +Additional computationally mapped references. p>Provides general information on the entry.
NCBI GI登录号 :
113204615
NCBI登录号 :
NP_000531.2
NCBI基因登录号 :
NM_000540.2
UniProt数据库登录号 :
P21817
NCBI分子量 :
63.4kD
NCBI信号通路 :
Calcium Regulation In The Cardiac Cell Pathway (198906); Calcium Signaling Pathway (83050); Calcium Signaling Pathway (459); Cardiac Conduction Pathway (1339115); Circadian Entrainment Pathway (698773); Circadian Entrainment Pathway (699872); Ion Channel Transport Pathway (1269950); Ion Homeostasis Pathway (1339121); Long-term Depression Pathway (83086); Long-term Depression Pathway (497)
UniProt数据库总结 :
RYR1: Calcium channel that controls communication between transverse-tubules and sarcoplasmic reticulum. Contraction of skeletal muscle is triggered by release of calcium ions from SR following depolarization of T-tubules. Can mediate the release of Ca(2+) from intracellular stores in neurons, and may thereby promote prolonged Ca(2+) signaling in the brain. Required for normal development of muscle fibers, skeletal muscle, heart morphogenesis, and skin development and ossification during embryogenesis. Defects in RYR1 are the cause of malignant hyperthermia susceptibility type 1 (MHS1) and central core disease of muscle (CCD). CCD is an autosomal dominant congenital myopathy, but a severe autosomal recessive form also exists. Defects in RYR1 are the cause of multiminicore disease with external ophthalmoplegia (MMDO), congenital myopathy with fiber-type disproportion (CFTD). Defects in RYR1 may be a cause of Samaritan myopathy, a congenital myopathy with benign course. Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR1 subfamily. 3 isoforms of the human protein are produced by alternative splicing. Protein type: Membrane protein, integral; Channel, calcium; Transporter, ion channel; Membrane protein, multi-pass; Transporter. Chromosomal Location of Human Ortholog: 19q13.1. Cellular Component: cell cortex; cytoplasm; cytosol; I band; integral to plasma membrane; junctional membrane complex; plasma membrane; sarcoplasmic reticulum; sarcoplasmic reticulum membrane; smooth endoplasmic reticulum; T-tubule. Molecular Function: calcium channel activity; calcium ion binding; calcium-release channel activity; calmodulin binding; protease binding; protein binding; ryanodine-sensitive calcium-release channel activity; voltage-gated calcium channel activity. Biological Process: calcium ion transport; cytosolic calcium ion homeostasis; muscle contraction; release of sequestered calcium ion by sarcoplasmic reticulum into cytosol; release of sequestered calcium ion into cytosol; response to caffeine; response to hypoxia; skeletal muscle fiber development; skin development; transmembrane transport. Disease: Central Core Disease Of Muscle; Malignant Hyperthermia, Susceptibility To, 1; Minicore Myopathy With External Ophthalmoplegia; Myopathy, Congenital, With Fiber-type Disproportion
尺寸1 :
0.05毫克(大肠杆菌)
价格1 :
185美元
尺寸2 :
0.2毫克(大肠杆菌)
价格2 :
420
size3 :
0.5毫克(大肠杆菌)
价格3 :
680
size4 :
1毫克(大肠杆菌)
price4 :
1070
更多信息或购买 :
公司信息
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