Aliases for COL3A1 Gene
External Ids for COL3A1 Gene
Previous HGNC Symbols for COL3A1 Gene
Previous GeneCards Identifiers for COL3A1 Gene
This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
GeneCards Summary for COL3A1 Gene
COL3A1 (Collagen Type III Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL3A1 include Ehlers-Danlos Syndrome, Vascular Type and Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome. Among its related pathways are Collagen chain trimerization and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include integrin binding and SMAD binding. An important paralog of this gene is COL2A1.
UniProtKB/Swiss-Prot Summary for COL3A1 Gene
Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12.