HAX-1 Products

Description

HAX1 is 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. [provided by RefSeq]

Bioinformatics

Entrez	10456 Human
Uniprot	AAH15209 Human AAH15209.1 Human NM_006118 Human NP_001018238 Human NP_006109 Human NP_006109.2 Human O00165 Human
Product By Gene ID	10456
Alternate Names	FLJ17042 FLJ93803 HAX-1 HCLS1 (and PKD2) associated protein HCLS1 associated protein X-1 HCLS1-associated protein X-1 HCLSBP1 HS1 binding protein HS1-associating protein X-1 HS1-binding protein 1 HS1BP1FLJ18492 HSP1BP-1 SCN3