NDUFS8 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol NDUFS8
Gene name NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
Chromosome 11
Chromosomal band q13.2
Imprinted Unknown
Genomic reference NC_000011.9
Transcript reference NM_002496.3
Associated with diseases 252010, LS
Citation reference(s) -
Curators (0) -
Total number of public variants reported 35
Unique public DNA variants reported 28
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
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 7715
Entrez Gene 4728
PubMed articles NDUFS8
OMIM - Gene 602141
OMIM - Diseases 252010 (Mitochondrial complex I deficiency, 252010 (3))
LS (Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3))
HGMD NDUFS8
GeneCards NDUFS8
GeneTests NDUFS8


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000218 11 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) NM_002496.3 NP_002487.1 35


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