||Recombinant fragment, corresponding to amino acids 65-231 of Human HAX1 Isoform 5 with N terminal His tag; MWt 22 kDa.
||The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It 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 that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene.
||Lyophilised:Reconstitute with 98 μl aqua dest.
||Preservative: NoneConstituents: 0.5% Trehalose, 6M Urea, 100mM Sodium phosphate, 10mM Sodium chloride, pH 4.5
||Shipped at 4°C. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles.
|Sequences of amino acids:
||ETPGERLREGQTLRDSMLKYPDSHQPRIFGGVLESDARSE SPQPAPDWGSQRPFHRFDDVWPMDPHPRTREDNDLDSQ VSQEGLGPVLQPQPKSYFKSISVTKITKPDGIVEERRT VVDSEGRTETTVTRHEADSSPRGDPESPRPPALDDAFSILDLFLGRWFRSR