NDUFAF4 gene homepage

General information
Gene symbol NDUFAF4
Gene name NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
Chromosome 6
Chromosomal band q16.3
Imprinted Unknown
Genomic reference NG_013379.1
Transcript reference NM_014165.3
Exon/intron information NM_014165.3 exon/intron table
Associated with diseases MC1DN
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 7
Unique public DNA variants reported 6
Individuals with public variants 10
Hidden variants 0
Download all this gene's data Download all data
Notes Alias C6ORF66.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated July 30, 2017
Version NDUFAF4:170730

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_014165.3.
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 https://www.LOVD.nl/NDUFAF4
HGNC 21034
Entrez Gene 29078
PubMed articles NDUFAF4
OMIM - Gene 611776
OMIM - Diseases MC1DN (mitochondrial complex I deficiency (MC1DN))
GeneCards NDUFAF4
GeneTests NDUFAF4

Active transcripts




NCBI ID     

NCBI Protein ID     

00014414 6 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4 NM_014165.3 NP_054884.1 7

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