Gene Symbol | SETX |
Entrez Gene ID | 23064 |
Full Name | senataxin |
Synonyms | ALS4,AOA2,SCAR1,Sen1,bA479K20.2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Amyotrophic lateral sclerosis 4, juvenile, 602433 (3); Spinocerebellar ataxia, autosomal recessive 1, 606002 (3) |