View 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 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Notes MSeqDR-LSDB
Date created November 07, 2013

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))
HGMD NDUFA2
GeneCards NDUFA2
GeneTests NDUFA2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000189 5 transcript variant 1 NM_002488.4 NP_002479.1 0
00000190 5 transcript variant 2 NM_001185012.1 NP_001171941.1 0
00000191 5 transcript variant 3 NR_033697.1 - 0


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