HAX1, Official Symbol HAX1provided by HGNC Official Full Name HCLS1 associated protein X-1provided by HGNC Primary source HGNC:HGNC:16915 See related Ensembl:ENSG00000143575 MIM:605998; AllianceGenome:HGNC:16915 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SCN3; HS1BP1; HCLSBP1 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, Jul 2008] Expression Ubiquitous expression in heart (RPKM 48.3), thyroid (RPKM 38.9) and 25 other tissues See more Orthologs mouse all