The PDHA1 gene homepage

General information
Gene symbol PDHA1
Gene name pyruvate dehydrogenase (lipoamide) alpha 1
Chromosome X
Chromosomal band p22.1
Imprinted Unknown
Genomic reference NG_016781.1
Transcript reference NM_000284.3
Exon/intron information NM_000284.3 exon/intron table
Associated with diseases ID, PDHAD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 128
Unique public DNA variants reported 113
Individuals with public variants 107
Hidden variants 25
Download all this gene's data Download all data
Notes This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated February 26, 2024
Version PDHA1:240226

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000284.3.
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
Homepage URL http://www.LOVD.nl/PDHA1
HGNC 8806
Entrez Gene 5160
PubMed articles PDHA1
OMIM - Gene 300502
OMIM - Diseases PDHAD (pyruvate dehydrogenase E1-alpha deficiency (PDHAD, Leigh syndrome, X-linked))
HGMD PDHA1
GeneCards PDHA1
GeneTests PDHA1
Orphanet PDHA1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023869 X transcript variant 1 NM_000284.3 NP_000275.1 128


Copyright & disclaimer
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