Torsin A

TOR1A
Identifiers
AliasesTOR1A, DQ2, DYT1, Torsin A, torsin family 1 member A, AMC5
External IDsOMIM: 605204; MGI: 1353568; HomoloGene: 37263; GeneCards: TOR1A; OMA:TOR1A - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000113

NM_144884

RefSeq (protein)

NP_000104

NP_659133

Location (UCSC)Chr 9: 129.81 – 129.82 MbChr 2: 30.85 – 30.86 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Torsin-1A (TorA) also known as dystonia 1 protein (DYT1) is a protein that in humans is encoded by the TOR1A gene (also known as DQ2 or DYT1).[5] TorA localizes to the endoplasmic reticulum and contiguous perinuclear space, where its ATPase activity is activated by either LULL1 or LAP1, respectively.

Function

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The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family.[6]

Clinical significance

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Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1.[6]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000136827Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026849Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Ozelius LJ, Page CE, Klein C, Hewett JW, Mineta M, Leung J, Shalish C, Bressman SB, de Leon D, Brin MF, Fahn S, Corey DP, Breakefield XO (Mar 2000). "The TOR1A (DYT1) gene family and its role in early onset torsion dystonia". Genomics. 62 (3): 377–84. doi:10.1006/geno.1999.6039. PMID 10644435.
  6. ^ a b "Entrez Gene: TOR1A torsin family 1, member A (torsin A)".

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.