The protein encoded by this gene is known to associatenwith hematopoietic cell-specific Lyn substrate 1, a substrate ofnSrc family tyrosine kinases. It also interacts with the product ofnthe polycystic kidney disease 2 gene, mutations in which arenassociated with autosomal-dominant polycystic kidney disease, andnwith the F-actin-binding protein, cortactin. It was earlier thoughtnthat this gene product is mainly localized in the mitochondria,nhowever, recent studies indicate it to be localized in the cellnbody. Mutations in this gene result in autosomal recessive severencongenital neutropenia, also known as Kostmann disease. Twontranscript variants encoding different isoforms have been found fornthis gene.
应用类型
WB,IHC
免疫原
This HAX1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 161-190 amino acids from the C-terminal region of human HAX1.
