Description

The C12orf65 gene (chromosome 12 open reading frame 65) [HGNC Gene ID:26784] is located on chromosome 12q24.31. This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010] [NCBI Gene ID:91574] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name
C12orf65 gene
Part Display Name
C12orf65 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2015-01-05
Construct for LOINC Short Name
C12orf65

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP188491-7

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)C12orf65 基因
Synonyms: Chromosome 12 Open Reading Frame 65;染色体 12 开放阅读框 65;第 12 号染色体开放阅读框 65;COXPD7;SPG55
es-ESSpanish (Spain)Gen C12orf65
it-ITItalian (Italy)C12orf65, gene
tr-TRTurkish (Turkey)C12orf65 geni
nl-NLDutch (Netherlands)c12of65-gen
Synonyms: c12of65 gen
fr-FRFrench (France)C12orf65 gène
pl-PLPolish (Poland)C12orf65 gen
Synonyms: Gen C12orf65;Gen MTRFR
el-GRGreek (Greece)Γονίδιο C12orf65
Synonyms: Γονίδιο C12orf65