COL18A1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human COL18A1 wild-type allele is located in the vicinity of 21q22.3 and is approximately 109 kb in length. This allele, which encodes collagen alpha-1 (XVIII) chain protein, plays a role in the development of both the neural tube and the retina. Mutations in the gene are associated with Knobloch syndrome.

**Synonyms:** - Collagen XVIII (Alpha 1) Gene - Collagen, Type XVIII, Alpha 1 wt Allele - Collagen, Type XVIII, Alpha-1 Gene - Endostatin Gene - KNO - KNO1 - KS - Knobloch Syndrome, Type 1 Gene