Version 2.77

Description

The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] Source: 3M Health Information Systems,

Basic Part Properties

Part Display Name
NDUFAF5 gene targeted mutation analysis
Part Type
Component (Describes the core component or analyte measured)
Created On
2023-04-24
Construct for LOINC Short Name
NDUFAF5 Mut Anl

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP435231-8

Language Variants Get Info

Tag Language Translation
nl-NL Dutch (Netherlands) NDUFAF5-gen doelgerichte mutatie-analyse
zh-CN Chinese (China) NDUFAF5 基因靶向突变
it-IT Italian (Italy) Gene NDUFAF5, mutazione mirata
Synonyms: Analisi di mutazione mirata del gene NDUFAF5