PACS1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PACS1 wild-type allele is located within 11q13.1-q13.2 and is approximately 174 kb in length. This allele, which encodes phosphofurin acidic cluster sorting protein 1, plays a role in targeting proteins to the Golgi. Mutation of the gene is associated with autosomal dominant mental retardation 17.

**Synonyms:** - FLJ10209 - KIAA1175 - MRD17 - Phosphofurin Acidic Cluster Sorting Protein 1 wt Allele