NDUFAF6 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol NDUFAF6
Gene name NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
Chromosome 8
Chromosomal band q22.1
Imprinted Unknown
Genomic reference NC_000008.10
Transcript reference NM_152416.3, XM_005250788.1, XM_005250789.1, XM_005250790.1, XM_005250791.1, XM_005250792.1, XM_005250793.1
Associated with diseases 618239
Citation reference(s) -
Curators (1) Lishuang Shen
Total number of public variants reported 11
Unique public DNA variants reported 10
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 13, 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 28625
Entrez Gene 137682
PubMed articles NDUFAF6
OMIM - Gene 612392
OMIM - Diseases 618239 (MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17)
HGMD NDUFAF6
GeneCards NDUFAF6
GeneTests NDUFAF6


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00001309 8 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 NM_152416.3 NP_689629.2 11
00001310 8 transcript variant X1 XM_005250788.1 XP_005250845.1 11
00001311 8 transcript variant X2 XM_005250789.1 XP_005250846.1 11
00001312 8 transcript variant X3 XM_005250790.1 XP_005250847.1 11
00001313 8 transcript variant X4 XM_005250791.1 XP_005250848.1 11
00001314 8 transcript variant X5 XM_005250792.1 XP_005250849.1 11
00001315 8 transcript variant X6 XM_005250793.1 XP_005250850.1 11


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Sources: GeneDX http://www.genedx.com

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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