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Gene: NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5) Homo sapiens
Symbol: NDUFAF5
Name: NADH:ubiquinone oxidoreductase complex assembly factor 5
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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: arginine-hydroxylase NDUFAF5, mitochondrial; bA526K24.2; C20orf7; dJ842G6.1; FLJ22324; MC1DN16; MGC90272; NADH dehydrogenase (ubiquinone) complex I, assembly factor 5; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5; probable methyltransferase C20orf7, mitochondrial; putative methyltransferase NDUFAF5
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh382013,785,026 - 13,821,580 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372013,765,672 - 13,799,067 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362013,713,682 - 13,745,874 (+)NCBINCBI36hg18NCBI36
Celera2013,835,718 - 13,869,123 (+)NCBI
Cytogenetic Map20p12.1NCBI
HuRef2013,720,309 - 13,753,711 (+)NCBIHuRef
CHM1_12013,765,617 - 13,799,023 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on NDUFAF5
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1603963
Created: 2007-04-28
Species: Homo sapiens
Last Modified: 2019-10-08
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.