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A few cases of breast, ovarian and gastric cancers exhibited strong cytoplasmic positivity. Several colorectal, breast, prostate, thyroid, lung and testicular cancers showed weak to moderate staining. Remaining cancers were mainly negative.
GENE INFORMATION
Gene name
HAX1 (HGNC Symbol)
Synonyms
HCLSBP1, HS1BP1
Description
HCLS1 associated protein X-1 (HGNC Symbol)
Entrez 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, Jul 2008]