HAX1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human HAX1 wild-type allele is located in the vicinity of 1q21.3 and is approximately 3 kb in length. This allele, which encodes HCLS1-associated protein X-1, is involved in cytokine signaling, clathrin-mediated endocytosis and cytoskeletal remodeling. Mutation of the gene is associated with autosomal recessive severe congenital neutropenia 3 (SCN3; Kostmann disease).

**Synonyms:** - HCLS1 (and PKD2) Associated Protein Gene - HCLS1 Associated Protein X-1wt Allele - HCLSBP1 - HS1BP1 - SCN3