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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| HAX1-20-RE | 20 (40 μL) | 200 μL |  |
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| HAX1-20-OR | 20 (40 μL) | 200 μL |  |
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| HAX1-20-GO | 20 (40 μL) | 200 μL |  |
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| HAX1-20-GR | 20 (40 μL) | 200 μL |  |
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| HAX1-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : HAX1
Gene Name : HCLS1 associated protein X-1
Chromosome : CHR 1: 154,272,562-154,275,874
Locus : 1q21.3
Alt. Genes : LRPPRC
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