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))
HGMD NDUFAF4
GeneCards NDUFAF4
GeneTests NDUFAF4


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

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


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.