COL5A3
Description
The COL5A3 (collagen type V alpha 3 chain) is a protein-coding gene located on chromosome 19.
The COL5A3 gene encodes the alpha-3(V) chain, a component of Type V collagen. Type V collagen is a fibrillar collagen that forms trimers with other alpha chains, contributing to the assembly of collagen fibers. It is often found alongside Type I collagen and plays a role in regulating the formation of heterotypic fibers composed of both Type I and Type V collagen. While closely related to Type XI collagen, the specific combinations of alpha chains in Types V and XI suggest they might represent a single collagen type with tissue-specific variations. Mutations in COL5A3 are associated with Ehlers-Danlos syndrome type III. Multiple transcript sizes are detected, but the exact nature of the shorter transcripts remains unclear.
Type V collagen is a minor component of connective tissue found throughout the body. It interacts with various molecules, including DNA, heparan sulfate, thrombospondin, heparin, and insulin.
COL5A3 is also known as -.
