COL3A1 Gene

The COL3A1 gene (COL3A1 stands for "collagen type III alpha 1 chain") is a protein-coding gene located on chromosome 2q32.2.

The COL3A1 gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen found in stretchable connective tissues such as skin, lung, uterus, intestine and the vascular system, often in association with type I collagen.

Diseases associated with COL3A1 include:

• Ehlers-Danlos syndrome, vascular type

and

• Polymicrogyria with or without Ehlers-Danlos syndrome, vascular type.

An important paralog of this gene is COL5A2.

Type III collagen is found in most soft connective tissues along with type I collagen. This collagen type is involved in the regulation of cortical development. It is the major ligand of ADGRG1 (Adhesion G Protein-Coupled Receptor G1) in the developing brain. Binding to ADGRG1 inhibits neuronal migration and activates the RhoA signaling pathway(Rho kinase 1 is an enzyme that activates several other enzymes by phosphorylation and is therefore an essential component of signal transduction).