NDUFAF4 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
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 NC_000006.11
Transcript reference NM_014165.3
Associated with diseases 252010, 618237
Citation reference(s) -
Curators (0) -
Total number of public variants reported 43
Unique public DNA variants reported 42
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 12, 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 21034
Entrez Gene 29078
PubMed articles NDUFAF4
OMIM - Gene 611776
OMIM - Diseases 252010 (Mitochondrial complex I deficiency, 252010 (3))
618237 (MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15)
HGMD NDUFAF4
GeneCards NDUFAF4
GeneTests NDUFAF4


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000953 6 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4 NM_014165.3 NP_054884.1 43


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Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium