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SETX / Senataxin is 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).
Gene Name: | senataxin |
Synonyms: | SETX, AOA2, KIAA0625, ALS4, SCAR1, BA479K20.2, Probable helicase senataxin, SEN1 homolog, Senataxin |
Target Sequences: | NM_015046 NP_055861.3 Q7Z333 |
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