XB-FEAT-952668: Difference between revisions
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=pdha1= | =pdha1= | ||
This is the community wiki page for the gene ''pdha1'' please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase | This is the community wiki page for the gene ''pdha1'' please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase | ||
=nomenclature changes= | |||
05/29/2017 | |||
Human name has changed for Entrez Gene: 5160. From pyruvate dehydrogenase (lipoamide) alpha 1 to pyruvate dehydrogenase alpha 1 | |||
08/15/2017 | |||
Human name has changed for Entrez Gene: 5160. From pyruvate dehydrogenase alpha 1 to pyruvate dehydrogenase E1 alpha 1 subunit | |||
=summary= | |||
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] | |||
Latest revision as of 07:07, 15 August 2017
pdha1
This is the community wiki page for the gene pdha1 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase
nomenclature changes
05/29/2017 Human name has changed for Entrez Gene: 5160. From pyruvate dehydrogenase (lipoamide) alpha 1 to pyruvate dehydrogenase alpha 1
08/15/2017 Human name has changed for Entrez Gene: 5160. From pyruvate dehydrogenase alpha 1 to pyruvate dehydrogenase E1 alpha 1 subunit
summary
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]