TOR1A wt Allele

Preferred Label : TOR1A wt Allele;

NCIt synonyms : TA; DYT1; Torsin A Gene; Torsin Family 1, Member A (Torsin A) Gene; DQ2; Torsin Family 1 Member A wt Allele; Dystonia 1, Torsion (Autosomal Dominant; Torsin A) Gene; TORA;

NCIt definition : Human TOR1A wild-type allele is located in the vicinity of 9q34.11 and is approximately 11 kb in length. This allele, which encodes torsin-1A protein, is involved in chaperone activity. Mutation of the gene is associated with autosomal dominant torsion dystonia 1.;

NCI Metathesaurus CUI : CL540642;

GenBank Accession Number : AF007871;

Details

Origin ID

C142758;

UMLS CUI

C4553364;

Automatic exact mappings (from CISMeF team)
- Early-onset generalized limb-onset dystonia [ORDO Disease]
- Ma+Ta Ab [LOINC component]
- adipose tissue [MeSH Descriptor]
- arterial pressure [MeSH Descriptor]
- dystonia musculorum deformans type 1 [MeSH Supplementary Concept]
- suicide, attempted [MeSH Descriptor]
- torsin family 1 member A [ORDO Gene]
OMIM relation
- Torsin 1a [OMIM gene]
See also inter- (CISMeF)
- Dystonia 1, torsion, autosomal dominant [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9q34.11 [NCIt concept]
gene_is_element_in_pathway
- Alpha-Synuclein Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Hydrolysis [NCIt concept]
- Protein Folding [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Unfolded Protein Response [NCIt concept]

Keyword's position in hierarchy(ies) :

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