NFU1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol NFU1
Gene name NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)
Chromosome 2
Chromosomal band p15-p13
Imprinted Unknown
Genomic reference NC_000002.11
Transcript reference NM_001002755.2, NM_001002756.2, NM_015700.3, NR_045631.1, NR_045632.1
Associated with diseases MMDS1
Citation reference(s) -
Curators (0) -
Total number of public variants reported 28
Unique public DNA variants reported 27
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 16287
Entrez Gene 27247
PubMed articles NFU1
OMIM - Gene 608100
OMIM - Diseases MMDS1 (Multiple mitochondrial dysfunctions syndrome 1, 605711 (3))
GeneCards NFU1
GeneTests NFU1

Active transcripts




NCBI ID     

NCBI Protein ID     

00000222 2 transcript variant 5 NR_045632.1 - 28
00000223 2 transcript variant 4 NR_045631.1 - 28
00000224 2 transcript variant 2 NM_001002755.2 NP_001002755.1 28
00000225 2 transcript variant 3 NM_001002756.2 NP_001002756.1 28
00000226 2 transcript variant 1 NM_015700.3 NP_056515.2 28

Copyright & disclaimer
Sources: GeneDX ; MitoCarta

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium