Aliases for HAX1 Gene
External Ids for HAX1 Gene
Previous GeneCards Identifiers for HAX1 Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for HAX1 Gene
HAX1 (HCLS1 Associated Protein X-1) is a Protein Coding gene. Diseases associated with HAX1 include severe congenital neutropenia and neutropenia, severe congenital 3, autosomal recessive. GO annotations related to this gene include protein domain specific binding and interleukin-1 binding.
UniProtKB/Swiss-Prot for HAX1 Gene
Promotes cell survival. Potentiates GNA13-mediated cell migration. Involved in the clathrin-mediated endocytosis pathway. May be involved in internalization of ABC transporters such as ABCB11. May inhibit CASP9 and CASP3. May regulate intracellular calcium pools.