MT-TL1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB

General information
Gene symbol	MT-TL1
Gene name	mitochondrially encoded tRNA leucine 1 (UUA/G)
Chromosome	M
Chromosomal band	M
Imprinted
Genomic reference	NC_012920.1
Transcript reference	MT-TL1-201
Associated with diseases	220110, CVS, KSS, MELAS SYNDROME, MERRF, MIDD
Citation reference(s)	-
Curators (0)	-
Total number of public variants reported	34
Unique public DNA variants reported	34
Individuals with public variants	0
Hidden variants	0
Download all this gene's data	Download all data
Notes	MSeqDR-LSDB
Date created	November 12, 2013
Date last updated	November 30, -0001
Version	MT-TL1:-11130

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	7490
Entrez Gene	4567
PubMed articles	MT-TL1
OMIM - Gene	590050
OMIM - Diseases	220110 (Mitochondrial complex IV deficiency, 220110 (3)) CVS (CYCLIC VOMITING SYNDROME) KSS (KEARNS-SAYRE SYNDROME, caused by various mitochondrial deletions) MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) MERRF (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS) MIDD (DIABETES AND DEAFNESS, MATERNALLY INHERITED)
HGMD	MT-TL1
GeneCards	MT-TL1
GeneTests	MT-TL1

Active transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00001320	M	MT-TL1-201	MT-TL1-201	-	34

Copyright & disclaimer
Mitochondria chromosome located genes from HGNC

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium