LP31868-0
TOR1A gene
Active
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 Name
- TOR1A gene
- 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
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | DYT1 基因 Synonyms: DYT2; |
| 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 |
| fr-FR | French (France) | TOR1A gène |
| pl-PL | Polish (Poland) | TOR1A gen Synonyms: Gen TOR1A |
| el-GR | Greek (Greece) | Γονίδιο TOR1A Synonyms: Γονίδιο TOR1A |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://