HAX1 Recombinant Protein

Source : E.coli. HAX1 Human Recombinant produced in E. coli is a single polypeptide chain containing 299 amino acids (1-279) and having a molecular mass of 33.7kDa. HAX1 is fused to a 20 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques. HAX1 associates with hematopoietic cell-specific Lyn substrate 1, which is a substrate of Src family tyrosine kinases. HAX1 also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought HAX1 is mainly localized to the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in the HAX1 gene result in autosomal recessive severe congenital neutropenia, aka Kostmann disease.