| Entrez gene ID | | 10456 |
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| Official gene symbol | | HAX1 |
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| Full name | | HCLS1 associated protein X-1 |
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| Aliases | | ,FLJ17042,FLJ18492,FLJ93803,HCLSBP1,HS1BP1,SCN3, |
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| 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] |
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| Location | | Chromosome: 1 Locus: 1q21.3 |
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| Gene position | | 154245039 - 154248351 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 3313 bp |
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| Gene sequence |
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| OMIM ID | | 605998 |
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