The NDUFAF5 gene homepage

General information
Gene symbol NDUFAF5
Gene name NADH:ubiquinone oxidoreductase complex assembly factor 5
Chromosome 20
Chromosomal band p12.1
Imprinted Unknown
Genomic reference NG_015811.1
Transcript reference NM_024120.4
Exon/intron information NM_024120.4 exon/intron table
Associated with diseases MC1DN, MC1DN16
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 28
Unique public DNA variants reported 21
Individuals with public variants 6
Hidden variants -
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created August 08, 2017
Date last updated January 11, 2023
Version NDUFAF5:230111

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_024120.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 15899
Entrez Gene 79133
PubMed articles NDUFAF5
OMIM - Gene 612360
OMIM - Diseases MC1DN (mitochondrial complex I deficiency, nuclear (MC1DN))
MC1DN16 (Mi complex I deficiency, nuclear type 16)
GeneCards NDUFAF5
GeneTests NDUFAF5
Orphanet NDUFAF5

Active transcripts




NCBI ID     

NCBI Protein ID     

00025306 20 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5, transcript variant 1 NM_024120.4 NP_077025.2 28

Copyright & disclaimer
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