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2 Shaker Rd Suites
B001/B101
Shirley, MA 01464
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Floor 6, Suite 620
20700 44th Avenue W
Lynnwood, WA 98036
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HAX-1
HCLS1 associated protein X-1
HAX-1 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.
| Gene Name: | HCLS1 associated protein X-1 |
| Synonyms: | HAX1, HAX-1, HCLSBP1, HS1BP1, HCLS1-associated protein X-1, HS1 binding protein, HS1-associating protein, HS1-binding protein 1, SCN3, HCLS1 associated protein X-1, HS1-associating protein X-1, HSP1BP-1 |
| Target Sequences: | NM_006118 NP_006109.2 O00165 |
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