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  • 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).
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