COL4A5 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human COL4A5 wild-type allele is located in the vicinity of Xq22 and is approximately 258 kb in length. This allele, which encodes collagen alpha-5(IV) chain protein, plays a role in the modulation of the conformation of the extracellular matrix. Mutation or deletion of the gene is associated with Alport syndrome.

**Synonyms:** - ASLN - ATS - CA54 - Collagen, Type IV, Alpha 5 (Alport Syndrome) wt Allele - MGC42377