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
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 14
Unique public DNA variants reported 12
Individuals with public variants 3
Hidden variants 2
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 August 15, 2018
Version NDUFAF5:180815

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 https://www.LOVD.nl/NDUFAF5
HGNC 15899
Entrez Gene 79133
PubMed articles NDUFAF5
OMIM - Gene 612360
OMIM - Diseases MC1DN (mitochondrial complex I deficiency (MC1DN))
GeneCards NDUFAF5
GeneTests 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 14

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