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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP208407-9

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)OPA3 基因
Synonyms: MGA3;视神经萎缩 3 (常染色体隐性, 伴舞蹈症和截瘫);视神经萎缩 3 (伊拉克-犹太人视神经萎缩+);Optic Atrophy 3 (Autosomal Recessive, With Chorea And Spastic Paraplegia);Optic Atrophy 3 (Iraqi-Jewish Optic Atrophy Plus)
es-ESSpanish (Spain)Gen OPA3
it-ITItalian (Italy)Gene OPA3
nl-NLDutch (Netherlands)OPA3-gen
Synonyms: OPA3 gen
fr-FRFrench (France)OPA3 gène
pl-PLPolish (Poland)OPA3 gen
Synonyms: Gen OPA3
el-GRGreek (Greece)Γονίδιο OPA3
Synonyms: Γονίδιο OPA3