LP62805-4
OPA1 gene
Active
Description
The OPA1 gene (optic atrophy 1 (autosomal dominant)) [HGNC Gene ID:8140] is located on chromosome 3q29. This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] [NCBI Gene ID:4976] 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
- OPA1 gene
- Part Display Name
- OPA1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2007-03-15
- Construct for LOINC Short Name
- OPA1 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) | OPA1 基因 Synonyms: NPG; |
| et-EE | Estonian (Estonia) | OPA1 geen |
| es-ES | Spanish (Spain) | Gen OPA1 |
| it-IT | Italian (Italy) | OPA1, gene Synonyms: Gene OPA1 |
| tr-TR | Turkish (Turkey) | OPA1 geni |
| ru-RU | Russian (Russian Federation) | OPA1 ген |
| nl-NL | Dutch (Netherlands) | OPA1-gen Synonyms: OPA1 gen |
| fr-FR | French (France) | OPA1 gène |
| pl-PL | Polish (Poland) | OPA1 gen Synonyms: Gen OPA1 |
| el-GR | Greek (Greece) | Γονίδιο OPA1 Synonyms: Γονίδιο OPA1 |
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://