TUFM gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol TUFM
Gene name Tu translation elongation factor, mitochondrial
Chromosome 16
Chromosomal band p11.2
Imprinted Unknown
Genomic reference NC_000016.9
Transcript reference NM_003321.4
Associated with diseases COXPD4
Citation reference(s) -
Curators (0) -
Total number of public variants reported 40
Unique public DNA variants reported 39
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
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 12420
Entrez Gene 7284
PubMed articles TUFM
OMIM - Gene 602389
OMIM - Diseases COXPD4 (Combined oxidative phosphorylation deficiency 4, 610678 (3))
HGMD TUFM
GeneCards TUFM
GeneTests TUFM


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000353 16 Tu translation elongation factor, mitochondrial NM_003321.4 NP_003312.3 40


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