Product Information
Molecular Weight144910Da
Protein NameCollagen alpha-2(V) chain
Human Gene Id1290
Human Swiss Prot NoP05997
Mouse Gene Id12832
Mouse Swiss Prot NoQ3U962
SpecificityCOL5A2 Polyclonal Antibody detects endogenous levels of COL5A2 protein.
FormulationLiquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Concentration1 mg/ml
Storage Stability-20°C/1 year
Other NameCOL5A2; Collagen alpha-2(V) chain
Observed Band(KD)145
Functiondisease:Defects in COL5A2 are a cause of Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]; also known as Ehlers-Danlos syndrome gravis or severe classic type Ehlers-Danlos syndrome. EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS1 is the severe form of classic Ehlers-Danlos syndrome.,disease:Defects in COL5A2 are a cause of Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010]; also known as Ehlers-Danlos syndrome mitis or mild classic type Ehlers Danlos syndrome.,disease:Genetic variation in COL5A2 is associated with spontaneous cervical artery dissections (sCAD). sCAD are an important cause of stroke among young and middle-aged patients. Ultrastructural abnormalities are observed in skin biopsies of most patients with sCAD. Major findings included enlarged and irregular collagen fibrils
Subcellular Locationextracellular region,proteinaceous extracellular matrix,collagen trimer,collagen type V trimer,endoplasmic reticulum lumen,extracellular matrix,
ExpressionBone,Brain,Chondrosarcoma,Placenta,Skin,
Backgroundcollagen type V alpha 2 chain(COL5A2) Homo sapiens This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008],