ELISA/assay

人类N乙酰葡糖胺亚单位甲/乙, GNPTAB酶联免疫吸附试剂盒

MBS9327704

48-Strip-Wells

470美元

酶联免疫吸附试剂盒

人类N乙酰葡糖胺亚单位甲/乙, GNPTAB酶联免疫吸附试剂盒

[N-乙酰葡萄糖胺转移酶, 甲和乙亚单位]

[人类N乙酰葡糖胺亚单位甲/乙(GNPTAB)酶联免疫吸附试剂盒;DKFZp762B226;GNPTA;ICD;KIAA1208;MGC4170;GlcNAc磷酸转移酶类;N-乙酰葡萄糖胺转移酶;UDP-N N乙酰葡糖胺;甲乙GlcNAc-1;N-乙酰葡萄糖胺转移酶;甲和乙亚单位]

[N-acetylglucosamine-1-phosphotransferase subunits alpha/beta; N-acetylglucosamine-1-phosphotransferase subunits alpha/beta; N-acetylglucosamine-1-phosphotransferase subunits alpha/beta; stealth protein GNPTAB; GlcNAc phosphotransferase; glcNAc-1-phosphotransferase subunits alpha/beta; UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosamine; UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta; glucosamine (UDP-N-acetyl)-lysosomal-enzyme N-acetylglucosamine phosphotransferase; N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits; GlcNAc-1-phosphotransferase subunits alpha/beta; Stealth protein GNPTAB; UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/betaCleaved into the following 2 chains:N-acetylglucosamine-1-phosphotransferase subunit alpha; N-acetylglucosamine-1-phosphotransferase subunit beta]

[GNPTAB]

[GNPTAB;GNPTAB;ICD;GNPTA;GNPTA;KIAA1208]

GNPTA_HUMAN

人类

No significant cross-reactivity or interference between this analyte and analogues is observed.

Store all reagents at 2-8 degree C

Samples: Undiluted original Human body fluids, tissue homogenates, secretions or feces samples. Assay Type: Sandwich. Detection Range: 0.625 ng/ml - 20 ng/ml. Sensitivity: 0.1 ng/ml.

Intra-assay Precision: Intra-assay CV (%) is less than 15%. Inter-assay Precision: Inter-assay CV (%) is less than 15%. [CV(%) = SD/mean ×100].

Background/Introduction: This Quantitative Sandwich ELISA kit is only for in vitro research use only, NOT for drug, household, therapeutic or diagnostic applications! This kit is intended to be used for determination the level of GNPTAB (hereafter termed "analyte") in undiluted original Human body fluids, tissue homogenates, secretions or feces samples. This kit is NOT suitable for assaying non-biological sources of substances.

38202211

NP_077288.2

NM_024312.4

Q3T906

143,622 Da

溶体通路(99052);溶体通路(96865)

This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]

GNPTAB: Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment. Defects in GNPTAB are the cause of mucolipidosis type II (MLII); also known as inclusion cell disease or I- cell disease (ICD). MLII is a fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features, peculiar fibroblast inclusions, and no excessive mucopolysacchariduria. Congenital dislocation of the hip, thoracic deformities, hernia, and hyperplastic gums are evident soon after birth. Defects in GNPTAB are the cause of mucolipidosis type III complementation group A (MLIIIA); also known as variant pseudo-Hurler polydystrophy. MLIIIA is an autosomal recessive disease of lysosomal enzyme targeting. Clinically MLIII is characterized by restricted joint mobility, skeletal dysplasia, and short stature. Mildly coarsened facial features and thickening of the skin have been described. Cardiac valvular disease and corneal clouding may also occur. Half of the reported patients show learning disabilities or mental retardation. Belongs to the stealth family. 2 isoforms of the human protein are produced by alternative splicing. Protein type: EC 2.7.8.17; Transferase; Membrane protein, integral. Chromosomal Location of Human Ortholog: 12q23.2. Cellular Component: Golgi membrane; Golgi apparatus; integral to membrane; nucleus. Molecular Function: UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity; calcium ion binding; transcription factor binding. Biological Process: lysosome organization and biogenesis; carbohydrate phosphorylation; protein secretion; cell differentiation. Disease: Mucolipidosis Iii Alpha/beta; Mucolipidosis Ii Alpha/beta

48-Strip-Wells

470美元

96-Strip-Wells

680

5x96-Strip-Wells

3100

10x96-Strip-Wells

6095