SETX
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Probable helicase senataxin is an enzyme that in humans is encoded by the SETX gene.[1][2][3]
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 oculomotor apraxia type 2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4).[3]
References
External links
- GeneReviews/NCBI/NIH/UW entry on Ataxia with Oculomotor Apraxia Type 2
- OMIM entries on Ataxia with Oculomotor Apraxia Type 2
- Genetics Home Reference
Further reading
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