LP208407-9
OPA3 gene
Active
Description
The OPA3 gene (optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)) [HGNC Gene ID:8142] is located on chromosome 19q13.32. The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] [NCBI Gene ID:80207] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- OPA3 gene
- Part Display Name
- OPA3 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-03-17
- Construct for LOINC Short Name
- OPA3
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | OPA3 基因 Synonyms: MGA3; |
| es-ES | Spanish (Spain) | Gen OPA3 |
| it-IT | Italian (Italy) | Gene OPA3 |
| nl-NL | Dutch (Netherlands) | OPA3-gen Synonyms: OPA3 gen |
| fr-FR | French (France) | OPA3 gène |
| pl-PL | Polish (Poland) | OPA3 gen Synonyms: Gen OPA3 |
| el-GR | Greek (Greece) | Γονίδιο OPA3 Synonyms: Γονίδιο OPA3 |
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://