COL3A1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human COL3A1 wild-type allele is located in the vicinity of 2q32.2 and is approximately 38 kb in length. This allele, which encodes collagen alpha-1(III) chain protein, is involved in collagen formation. Mutations in this gene are associated with Ehlers-Danlos syndrome type IV, aortic and arterial aneurysms and lipoblastoma.

**Synonyms:** - Collagen Type III Alpha 1 Chain wt Allele - Collagen, Blood Vessel Gene - Collagen, Fetal Gene - Collagen, Type III, Alpha 1 Gene - Collagen, Type III, Alpha-1 Gene - EDS4A - Ehlers-Danlos Syndrome Type IV, Autosomal Dominant Gene