NDUFA2 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol NDUFA2
Gene name NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
Chromosome 5
Chromosomal band q31.2
Imprinted Unknown
Genomic reference NC_000005.9
Transcript reference NM_001185012.1, NM_002488.4, NR_033697.1
Associated with diseases LS
Citation reference(s) -
Curators (0) -
Total number of public variants reported 10
Unique public DNA variants reported 10
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
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 7685
Entrez Gene 4695
PubMed articles NDUFA2
OMIM - Gene 602137
OMIM - Diseases LS (Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3))
GeneCards NDUFA2
GeneTests NDUFA2

Active transcripts




NCBI ID     

NCBI Protein ID     

00000189 5 transcript variant 1 NM_002488.4 NP_002479.1 10
00000190 5 transcript variant 2 NM_001185012.1 NP_001171941.1 10
00000191 5 transcript variant 3 NR_033697.1 - 10

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

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium