TTPA wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human TTPA wild-type allele is located in the vicinity of 8q12.3 and is approximately 38 kb in length. This allele, which encodes alpha-tocopherol transfer protein, is involved in both phosphatidylinositol phosphate (PIP) binding and alpha-tocopherol transport. Mutations in the gene are associated with ataxia with isolated vitamin E deficiency.

**Synonyms:** - ATTP - AVED - Alpha Tocopherol Transfer Protein wt Allele - AlphaTTP - Ataxia (Friedreich-Like) with Vitamin E Deficiency Gene - TTP1 - Tocopherol (Alpha) Transfer Protein (Ataxia (Friedreich-Like) with Vitamin E Deficiency) Gene - Tocopherol (Alpha) Transfer Protein Gene - Tocopherol Transfer Protein, Alpha Gene