SPTA1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human SPTA1 wild-type allele is located in the vicinity of 1q23.1 and is approximately 76 kb in length. This allele, which encodes spectrin alpha chain, erythrocytic 1 protein, plays a role in erythrocyte membrane morphology. Mutations in the gene are associated with elliptocytosis-2, hereditary pyropoikilocytosis and type 3 spherocytosis.

**Synonyms:** - Alpha-I Spectrin Gene - EL2 - Elliptocytosis 2 Gene - HPP - HS3 - SPH3 - SPTA - Spectrin Alpha Chain, Erythrocyte Gene - Spectrin Alpha, Erythrocytic 1 wt Allele - Spectrin, Alpha, Erythrocytic 1 (Elliptocytosis 2) Gene - Spectrin, Alpha, Erythrocytic 1 Gene