PDHA1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol PDHA1
Gene name pyruvate dehydrogenase (lipoamide) alpha 1
Chromosome X
Chromosomal band p22.1
Imprinted Unknown
Genomic reference NC_000023.10
Transcript reference NM_000284.3, NM_001173454.1, NM_001173455.1, NM_001173456.1
Associated with diseases 308930, PDHAD
Citation reference(s) -
Curators (0) -
Total number of public variants reported 14
Unique public DNA variants reported 14
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 8806
Entrez Gene 5160
PubMed articles PDHA1
OMIM - Gene 300502
OMIM - Diseases 308930 (Leigh syndrome, X-linked, 308930 (3))
PDHAD (PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY)
HGMD PDHA1
GeneCards PDHA1
GeneTests PDHA1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000245 X transcript variant 2 NM_001173454.1 NP_001166925.1 14
00000246 X transcript variant 3 NM_001173455.1 NP_001166926.1 14
00000247 X transcript variant 1 NM_000284.3 NP_000275.1 14
00000248 X transcript variant 4 NM_001173456.1 NP_001166927.1 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