View NDUFS4 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol NDUFS4
Gene name NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
Chromosome 5
Chromosomal band q11.1
Imprinted Unknown
Genomic reference NC_000005.9
Transcript reference NM_002495.2, XM_005248525.1
Associated with diseases 252010, LS
Citation reference(s) -
Curators (0) -
Total number of public variants reported 5
Unique public DNA variants reported 4
Individuals with public variants 0
Hidden variants 0
Notes MSeqDR-LSDB
Date created November 07, 2013

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 7711
Entrez Gene 4724
PubMed articles NDUFS4
OMIM - Gene 602694
OMIM - Diseases 252010 (Mitochondrial complex I deficiency, 252010 (3))
LS (Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3))
HGMD NDUFS4
GeneCards NDUFS4
GeneTests NDUFS4


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000213 5 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) NM_002495.2 NP_002486.1 5
00000212 5 transcript variant X1 XM_005248525.1 XP_005248582.1 4


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium