COL3A1, Official Symbol COL3A1provided by HGNC Official Full Name collagen type III alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:2201 See related Ensembl:ENSG00000168542 MIM:120180; AllianceGenome:HGNC:2201 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EDS4A; EDSVASC; PMGEDSV Summary 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] Expression Biased expression in gall bladder (RPKM 1491.0), placenta (RPKM 1173.3) and 12 other tissues See more Orthologs mouse all