Products

ELISA

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

HAX1

Gene Alias

FLJ17042, FLJ18492, FLJ93803, HCLSBP1, HS1BP1, SCN3

Gene Description

HCLS1 associated protein X-1

Omim ID

Gene Ontology

Gene Summary

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

Other Designations

HCLS1 (and PKD2) associated protein|HS1 binding protein|OTTHUMP00000034190