Collagen V α1 (Cleaved-Ala1605) rabbit pAb

Disease: Defects in COL5A1 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 COL5A1 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. function: 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. PTM: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. PTM: Sulfated on 40% of tyrosines. similarity: Belongs to the fibrillar collagen family. similarity: Contains 1 laminin G-like domain. similarity: Contains 1 TSP N-terminal (TSPN) domain. subunit: Trimers of two alpha 1 (V) and one alpha 2 (V) chains in most tissues and trimers of one alpha 1 (V), one alpha 2 (V), and one alpha 3 (V) chains in placenta. Interacts with CSPG4.