抗体

COL6A2多克隆抗体

MBS128717

0.05毫升

285美元

多克隆

兔

未共轭

人类, 小鼠, 大鼠

免疫印迹, 免疫组化

抗体

COL6A2多克隆抗体

COL6A2

PP3610

Collagen alpha-2(VI) chain; Collagen alpha-2(VI) chain; collagen alpha-2(VI) chain; collagen alpha-2(VI) chain; collagen VI, alpha-2 polypeptide; human mRNA for collagen VI alpha-2 C-terminal globular domain; collagen, type VI, alpha 2

COL6A2

COL6A2;COL6A2;PP3610

CO6A2_HUMAN

多克隆

IgG

兔

人类, 小鼠, 大鼠

1019

亲和纯化

1毫克/毫升

Store at -20 degree C (regular) or -80 degree C (long term). Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

免疫印迹(免疫印迹), 免疫组化(免疫组化)

WB: 1:200-1:2000。 IHC: 1:50-1:200

Species: Human. Immunogen: Recombinant Protein

Immunogen: Recombinant protein of human COL6A2. Calculated Molecular Weight: 109kDa

多克隆

This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene.

125987812

P12110.4

P12110

1019

Assembly Of Collagen Fibrils And Other Multimeric Structures Pathway (730306); Axon Guidance Pathway (105688); Collagen Biosynthesis And Modifying Enzymes Pathway (645289); Collagen Formation Pathway (645288); Developmental Biology Pathway (477129); ECM-receptor Interaction Pathway (83068); ECM-receptor Interaction Pathway (479); Extracellular Matrix Organization Pathway (576262); Focal Adhesion Pathway (198795); Focal Adhesion Pathway (83067)

This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]

COL6A2: Collagen VI acts as a cell-binding protein. Defects in COL6A2 are a cause of Bethlem myopathy (BM). BM is a rare autosomal dominant proximal myopathy characterized by early childhood onset (complete penetrance by the age of 5) and joint contractures most frequently affecting the elbows and ankles. Defects in COL6A2 are a cause of Ullrich congenital muscular dystrophy (UCMD); also known as Ullrich scleroatonic muscular dystrophy. UCMD is an autosomal recessive congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy. Defects in COL6A2 are the cause of myosclerosis autosomal recessive (MYOSAR); also known as myosclerotic myopathy or congenital myosclerosis of Lowenthal. A condition characterized by chronic inflammation of skeletal muscle with hyperplasia of the interstitial connective tissue. The clinical picture includes slender muscles with firm woody consistency and restriction of movement of many joints because of muscle contractures. Belongs to the type VI collagen family. 3 isoforms of the human protein are produced by alternative splicing. Protein type: Secreted, signal peptide; Secreted; Extracellular matrix. Chromosomal Location of Human Ortholog: 21q22.3. Cellular Component: extracellular matrix; proteinaceous extracellular matrix; extracellular space; collagen; protein complex; endoplasmic reticulum lumen; extracellular region; vesicle; sarcolemma. Molecular Function: protein binding. Biological Process: axon guidance; collagen catabolic process; extracellular matrix disassembly; extracellular matrix organization and biogenesis; response to glucose stimulus; cell adhesion. Disease: Bethlem Myopathy; Myosclerosis, Autosomal Recessive; Ullrich Congenital Muscular Dystrophy

0.05毫升

285美元

0.2毫升

555