DLAT gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB

General information
Gene symbol	DLAT
Gene name	dihydrolipoamide S-acetyltransferase
Chromosome	11
Chromosomal band	q23.1
Imprinted	Unknown
Genomic reference	NC_000011.9
Transcript reference	NM_001931.4
Associated with diseases	PDHDD
Citation reference(s)	-
Curators (0)	-
Total number of public variants reported	14
Unique public DNA variants reported	13
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	2896
Entrez Gene	1737
PubMed articles	DLAT
OMIM - Gene	608770
OMIM - Diseases	PDHDD (PYRUVATE DEHYDROGENASE E2 DEFICIENCY)
HGMD	DLAT
GeneCards	DLAT
GeneTests	DLAT

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
00000094	11	dihydrolipoamide S-acetyltransferase	NM_001931.4	NP_001922.2	14

Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium