PA5-27592 targets HAX1 in IF, IHC (P), and WB applications and shows reactivity with Human samples.
The PA5-27592 immunogen is recombinant fragment corresponding to a region within amino acids 1 and 279 of Human HAX1.
Store product as a concentrated solution. Centrifuge briefly prior to opening the vial. For short-term storage (1-2 weeks), product can be stored at 4°C. For long-term storage, aliquot and store product at -20° C or below, avioiding multiple freeze-thaw cycles.
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.
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Protein Aliases: HAX-1; HCLS1 (and PKD2) associated protein; HCLS1-associated protein X-1; HCLSBP1; HS1 binding protein; HS1-associating protein X-1; HS1-binding protein 1; HS1BP1; HSP1BP-1; SCN3
Gene Aliases: HAX1; HCLSBP1; HS1BP1; SCN3
UniProt ID: (Human) O00165
Entrez Gene ID: (Human) 10456