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COL3A1 collagen type III alpha 1 chain

Gene ID: 1281, updated on 21-Mar-2023
Gene type: protein coding
Also known as: EDS4A; EDSVASC; PMGEDSV


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 type IV, and with aortic and arterial aneurysms. [provided by R. Dalgleish, Feb 2008]

Copy number response

Copy number response

No evidence available (Last evaluated 2017-01-12)

ClinGen Genome Curation Page

Sufficient evidence for dosage pathogenicity (Last evaluated 2017-01-12)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 2; NC_000002.12 (188974373..189012746)
Total number of exons:


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