Torsin A

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TOR1A
Identifiers
Aliases TOR1A, DQ2, DYT1, Torsin A, torsin family 1 member A
External IDs MGI: 1353568 HomoloGene: 37263 GeneCards: TOR1A
RNA expression pattern
PBB GE TOR1A 202348 s at fs.png

PBB GE TOR1A 202349 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000113

NM_144884

RefSeq (protein)

NP_000104

NP_659133.1
NP_659133

Location (UCSC) Chr 9: 129.81 – 129.82 Mb Chr 2: 30.96 – 30.97 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Torsin-1A (TOR1A) 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).[3]

Function[edit]

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 and is expressed prominently in the substantia nigra pars compacta.[4]

Clinical significance[edit]

Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1.[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ a b "Entrez Gene: TOR1A torsin family 1, member A (torsin A)". 

Further reading[edit]

External links[edit]

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