Version 2.78

Description

The TOR1A gene (torsin family 1, member A (torsin A)) [HGNC Gene ID:3098] is located on chromosome 9q34. 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. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1861] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Display Name
TOR1A gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2003-08-08
Construct for LOINC Short Name
TOR1A gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP31868-0
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP31868-0

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) DYT1 基因
Synonyms: DYT2;TOR1A;肌张力异常 1, 扭转;肌张力障碍 1, 扭转;进行性脊柱前凸性步行困难 1, 扭转
et-EE Estonian (Estonia) DYT1 geen
es-ES Spanish (Spain) Gen DYT1
it-IT Italian (Italy) TOR1A, gene
Synonyms: Gene TOR1A
tr-TR Turkish (Turkey) TOR1A geni
ru-RU Russian (Russian Federation) TOR1A ген
nl-NL Dutch (Netherlands) TOR1A-gen
Synonyms: TOR1A gen