SETX

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SETX
Identifiers
Aliases SETX, ALS4, AOA2, SCAR1, bA479K20.2, senataxin
External IDs MGI: 2443480 HomoloGene: 41003 GeneCards: 23064
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
Ensembl
UniProt
RefSeq (mRNA)

NM_015046

NM_198033

RefSeq (protein)

NP_055861.3

NP_932150.2

Location (UCSC) Chr 9: 132.26 – 132.35 Mb Chr 2: 29.12 – 29.18 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Probable helicase senataxin is an enzyme that in humans is encoded by the SETX gene.[3][4][5]

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).[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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 1376963free to read. PMID 9497266. 
  4. ^ 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 1288574free to read. PMID 11022012. 
  5. ^ a b "Entrez Gene: SETX senataxin". 

External links[edit]

Further reading[edit]