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.