PSTPIP1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PSTPIP1 wild-type allele is located in the vicinity of 15q24.3 and is approximately 44 kb in length. This allele, which encodes proline-serine-threonine phosphatase-interacting protein 1, plays a role in immunoregulation and actin polymerization. Mutation of the gene is associated with pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome (PAPAS).

**Synonyms:** - CD2BP1 - CD2BP1L - CD2BP1S - H-PIP - PAPAS - PSTPIP - Proline-Serine-Threonine Phosphatase Interacting Protein 1 wt Allele