COL3A1 Gene

Last updated on: 21.08.2023

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DefinitionThis section has been translated automatically.

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

General informationThis section has been translated automatically.

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:

and

An important paralog of this gene is COL5A2.

Note(s)This section has been translated automatically.

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).

Last updated on: 21.08.2023