The NDUFAF1 gene homepage

General information
Gene symbol NDUFAF1
Gene name NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
Chromosome 15
Chromosomal band q11.2-q21.3
Imprinted Unknown
Genomic reference NG_031924.1
Transcript reference NM_016013.3
Associated with diseases MC1DN, MC1DN11
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 11
Unique public DNA variants reported 10
Individuals with public variants 71
Hidden variants -
Date created May 03, 2013
Date last updated May 09, 2022
Version NDUFAF1:220509

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 18828
Entrez Gene 51103
PubMed articles NDUFAF1
OMIM - Gene 606934
OMIM - Diseases MC1DN (mitochondrial complex I deficiency, nuclear (MC1DN))
MC1DN11 (Mi complex I deficiency, nuclear type 11)
Orphanet NDUFAF1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00014411 15 transcript variant 1 NM_016013.3 NP_057097.2 11


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