View 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 1
Unique public DNA variants reported 1
Individuals with public variants 0
Hidden variants 0
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


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000094 11 dihydrolipoamide S-acetyltransferase NM_001931.4 NP_001922.2 1


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