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Testicular cancers, a few cases of malignant carcinoids and some colorectal cancers showed moderate cytoplasmic staining. Remaining malignant tissues were negative.
GENE INFORMATION
Gene name
SETX (HGNC Symbol)
Synonyms
ALS4, AOA2, KIAA0625, SCAR1
Description
Senataxin (HGNC Symbol)
Entrez gene summary
This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008]