MTO1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol MTO1
Gene name mitochondrial tRNA translation optimization 1
Chromosome 6
Chromosomal band q14.1
Imprinted Unknown
Genomic reference NC_000006.11
Transcript reference NM_001123226.1, NM_012123.3, NM_133645.2
Associated with diseases COXPD10
Citation reference(s) -
Curators (0) -
Total number of public variants reported 52
Unique public DNA variants reported 48
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 19261
Entrez Gene 25821
PubMed articles MTO1
OMIM - Gene 614667
OMIM - Diseases COXPD10 (Combined oxidative phosphorylation deficiency 10, 614702 (3))
HGMD MTO1
GeneCards MTO1
GeneTests MTO1


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000178 6 mitochondrial translation optimization 1 homolog (S. cerevisiae), transcript variant 1 NM_133645.2 NP_598400.1 52
00000179 6 mitochondrial translation optimization 1 homolog (S. cerevisiae), transcript variant 3 NM_001123226.1 NP_001116698.1 52
00000180 6 mitochondrial translation optimization 1 homolog (S. cerevisiae), transcript variant 2 NM_012123.3 NP_036255.2 52


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

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