Collagen alpha-2(V) chain (COL5A2)

Collagen alpha-2(V) chain is a protein encoded by the COL5A2 gene in humans and is one of the alpha chains that forms type V collagen, a low-abundance fibrillar collagen found in nearly all connective tissues. Type V collagen is typically co-expressed and forms heterotrimers with type I collagen. It plays a critical regulatory role in collagen fibril assembly, specifically controlling fibril diameter and the incorporation of other collagens, thereby contributing to tissue strength and integrity. Mutations in the COL5A2 gene cause the classical type of Ehlers-Danlos syndrome, a heritable connective tissue disorder characterized by hyperextensible skin, abnormal scarring, and joint hypermobility. Although COL5A2 participates in extracellular matrix structure, it is not considered a classical therapeutic target such as a receptor or enzyme; rather, it is a structural gene relevant for genetic diagnostics and research into connective tissue pathology.

Other names

Collagen type V alpha 2 chainAB collagenEDSCEDSCL2Collagen type V alpha 2CO5A2_HUMANCollagen, fetal membrane, A polypeptideCollagen, type V, alpha 2Collagen V, alpha-2 polypeptide

Not applicable (no direct-targeted drugs known)