SETX

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Senataxin
Identifiers
Symbols SETX ; ALS4; AOA2; SCAR1; bA479K20.2
External IDs OMIM608465 MGI2443480 HomoloGene41003 GeneCards: SETX Gene
EC number 3.6.1.-
RNA expression pattern
PBB GE SETX 201964 at tn.png
PBB GE SETX 201965 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 23064 269254
Ensembl ENSG00000107290 ENSMUSG00000043535
UniProt Q7Z333 A2AKX3
RefSeq (mRNA) NM_015046 NM_198033
RefSeq (protein) NP_055861 NP_932150
Location (UCSC) Chr 9:
135.14 – 135.23 Mb
Chr 2:
29.12 – 29.18 Mb
PubMed search [1] [2]

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[edit]

  1. ^ Chance PF, Rabin BA, Ryan SG, Ding Y, Scavina M, Crain B, Griffin JW, Cornblath DR (Apr 1998). "Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34". Am J Hum Genet 62 (3): 633–40. doi:10.1086/301769. PMC 1376963. PMID 9497266. 
  2. ^ Nemeth AH, Bochukova E, Dunne E, Huson SM, Elston J, Hannan MA, Jackson M, Chapman CJ, Taylor AM (Nov 2000). "Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34". Am J Hum Genet 67 (5): 1320–6. doi:10.1016/S0002-9297(07)62962-0. PMC 1288574. PMID 11022012. 
  3. ^ a b "Entrez Gene: SETX senataxin". 

External links[edit]

Further reading[edit]