TTC7A wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human TTC7A wild-type allele is located in the vicinity of 2p21 and is approximately 160 kb in length. This allele, which encodes tetratricopeptide repeat protein 7A, plays a role in phosphatidylinositol 4-phosphate synthesis. Mutation of the gene is associated with gastrointestinal defects and immunodeficiency syndrome (GIDID).

**Synonyms:** - GIDID - KIAA1140 - MINAT - TTC7 - Tetratricopeptide Repeat Domain 7 Gene - Tetratricopeptide Repeat Domain 7A wt Allele