Pdha1 Gene Search Result

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2 records found for search term Pdha1

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
736556	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	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 ... (more) 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]	X	19343927	19361718	Human	452	symbol , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
7175945	PDHA1P1	PDHA1 pseudogene 1		3	57800054	57801449	Human		symbol , COSMIC , name , Human Proteome Map	gene, pseudo, INFERRED [RefSeq]