Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: FLJ17042; FLJ18492; FLJ93803; HAX-1; HCLS1 (and PKD2) associated protein; HCLS1-associated protein X-1; HS1 binding protein; HS1-associated protein X-1; HS1-associating protein X-1; HS1-binding protein 1; HSP1BP-1; OTTHUMP00000034190; RP11-137P24.1
Gene Aliases: HAX-1; HAX1; HCLSBP1; HS1BP1; HSP1BP-1; mHAX-1s; SCN3; SIG-111; Silg111
UniProt ID: (Human) O00165, (Rat) Q7TSE9, (Mouse) O35387
Entrez Gene ID: (Human) 10456, (Rat) 291202, (Mouse) 23897
If an Invitrogen™ antibody doesn't perform as described on our website or datasheet,we'll replace the product at no cost to you, or provide you with a credit for a future purchase.*
Learn moreGet expert recommendations for common problems or connect directly with an on staff expert for technical assistance related to applications, equipment and general product use.
Contact tech support