Collagen Type V (COL5A2) Antibody – Goat Polyclonal

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]

COL5A2: Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin. Type V collagen is a key determinant in the assembly of tissue- specific matrices. Defects in COL5A2 are a cause of Ehlers-Danlos syndrome type 1 (EDS1); 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. Defects in COL5A2 are a cause of Ehlers-Danlos syndrome type 2 (EDS2); also known as Ehlers-Danlos syndrome mitis or mild classic type Ehlers Danlos syndrome. Belongs to the fibrillar collagen family.

Protein type: Secreted, signal peptide; Secreted

Chromosomal Location of Human Ortholog: 2q14-q32

Cellular Component: extracellular matrix; collagen type V; endoplasmic reticulum lumen; extracellular region

Molecular Function: metal ion binding; extracellular matrix structural constituent; SMAD binding

Biological Process: skin development; axon guidance; extracellular matrix disassembly; collagen catabolic process; extracellular matrix organization and biogenesis; ossification; collagen fibril organization; skeletal development; eye morphogenesis

Disease: Ehlers-danlos Syndrome, Type I