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Gene: PDHA1 (pyruvate dehydrogenase E1 alpha 1 subunit) Homo sapiens
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Symbol: PDHA1
Name: pyruvate dehydrogenase E1 alpha 1 subunit
Description: The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: PDHA; PDHAD; PDHCE1A; PDHE1-A type I; PHE1A; pyruvate dehydrogenase (lipoamide) alpha 1; pyruvate dehydrogenase alpha 1; pyruvate dehydrogenase complex, E1-alpha polypeptide 1; pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial; pyruvate dehydrogenase E1 subunit
Orthologs:
Mus musculus (house mouse) : Pdha1 (pyruvate dehydrogenase E1 alpha 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Pdha1 (pyruvate dehydrogenase E1 alpha 1 subunit)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Pdha1 (pyruvate dehydrogenase E1 alpha 1 subunit)
Pan paniscus (bonobo/pygmy chimpanzee) : PDHA1 (pyruvate dehydrogenase E1 alpha 1 subunit)
Canis lupus familiaris (dog) : PDHA1 (pyruvate dehydrogenase E1 alpha 1 subunit)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Pdha1 (pyruvate dehydrogenase E1 alpha 1 subunit)
Sus scrofa (pig) : PDHA1 (pyruvate dehydrogenase E1 alpha 1 subunit)
more info ...
Related Pseudogenes: PDHA1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X19,343,893 - 19,361,707 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X19,362,011 - 19,379,825 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X19,271,972 - 19,287,886 (+)NCBINCBI36hg18NCBI36
Build 34X19,121,707 - 19,137,622NCBI
CeleraX23,483,337 - 23,501,163 (+)NCBI
Cytogenetic MapXp22.12NCBI
HuRefX17,111,170 - 17,129,001 (+)NCBIHuRef
CHM1_1X19,393,050 - 19,410,882 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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Nomenclature History
 
More on PDHA1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 736556
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.