Pdha1 Gene Search Result

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16 records found for search term Pdha1

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
3286	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	ENCODES a protein that exhibits pyruvate dehydrogenase (acetyl-transferring) activity; INVOLVED IN pyruvate decarboxylation to acetyl-CoA; PARTICIPATES IN citric acid cycle pathway; fumaric aciduria pathway; Leigh disease pathway; ASSOCIATED WITH pyruvate decarboxylase deficiency; Disease Progressio ... (more) n (ortholog); epilepsy (ortholog); FOUND IN mitochondrial matrix; pyruvate dehydrogenase complex; mitochondrion (ortholog); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2,3,7,8-Tetrachlorodibenzofuran	X	38509158	38522986	Rat	219	symbol , PhenoGen	gene, protein-coding, VALIDATED [RefSeq]
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]
736557	Pdha1	pyruvate dehydrogenase E1 alpha 1	Enables pyruvate dehydrogenase (NAD+) activity. Acts upstream of or within pyruvate decarboxylation to acetyl-CoA. Located in mitochondrion. Part of catalytic complex. Is expressed in several structures, including alimentary system; brain; heart ventricle; metanephros; and sensory organ. Human ortho ... (more) log(s) of this gene implicated in pyruvate decarboxylase deficiency. Orthologous to human PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1). [provided by Alliance of Genome Resources, Apr 2025]	X	158905215	158921426	Mouse	267	symbol , PhenoGen , description	gene, protein-coding, VALIDATED [RefSeq]
8706358	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	ENCODES a protein that exhibits pyruvate dehydrogenase (acetyl-transferring) activity (ortholog); INVOLVED IN pyruvate decarboxylation to acetyl-CoA (ortholog); PARTICIPATES IN citric acid cycle pathway; fumaric aciduria pathway; Leigh disease pathway; ASSOCIATED WITH Disease Progression (ortholog); ... (more) epilepsy (ortholog); genetic disease (ortholog); FOUND IN mitochondrial matrix (ortholog); mitochondrion (ortholog); protein-containing complex (ortholog)	NW_004955586	98492	114927	Chinchilla	55	symbol	gene, protein-coding, MODEL [RefSeq]
12002717	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	ENCODES a protein that exhibits pyruvate dehydrogenase (acetyl-transferring) activity (ortholog); INVOLVED IN pyruvate decarboxylation to acetyl-CoA (ortholog); PARTICIPATES IN citric acid cycle pathway; fumaric aciduria pathway; Leigh disease pathway; ASSOCIATED WITH Disease Progression (ortholog); ... (more) epilepsy (ortholog); genetic disease (ortholog); FOUND IN pyruvate dehydrogenase complex (ortholog)	X	11967944	11985837	Bonobo	59	symbol	gene, protein-coding, MODEL [RefSeq]
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	ENCODES a protein that exhibits pyruvate dehydrogenase (acetyl-transferring) activity (ortholog); INVOLVED IN pyruvate decarboxylation to acetyl-CoA (ortholog); PARTICIPATES IN citric acid cycle pathway; fumaric aciduria pathway; Leigh disease pathway; ASSOCIATED WITH Disease Progression (ortholog); ... (more) epilepsy (ortholog); genetic disease (ortholog); FOUND IN mitochondrial matrix (ortholog); mitochondrion (ortholog); protein-containing complex (ortholog); INTERACTS WITH masitinib	X	15338364	15354011	Dog	56	symbol	gene, protein-coding, MODEL [RefSeq]
12607600	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	ENCODES a protein that exhibits pyruvate dehydrogenase (acetyl-transferring) activity (ortholog); INVOLVED IN pyruvate decarboxylation to acetyl-CoA (ortholog); PARTICIPATES IN citric acid cycle pathway; fumaric aciduria pathway; Leigh disease pathway; ASSOCIATED WITH Disease Progression (ortholog); ... (more) epilepsy (ortholog); genetic disease (ortholog); FOUND IN pyruvate dehydrogenase complex (ortholog)	NW_004936844	889720	906631	Squirrel	58	symbol	gene, protein-coding, MODEL [RefSeq]
18914609	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	ENCODES a protein that exhibits pyruvate dehydrogenase (acetyl-transferring) activity (ortholog); INVOLVED IN pyruvate decarboxylation to acetyl-CoA (ortholog); PARTICIPATES IN citric acid cycle pathway; fumaric aciduria pathway; Leigh disease pathway; ASSOCIATED WITH Disease Progression (ortholog); ... (more) epilepsy (ortholog); genetic disease (ortholog); FOUND IN pyruvate dehydrogenase complex (ortholog)				Naked Mole-Rat	60	symbol	gene, protein-coding, MODEL [RefSeq]
626102740	Pdha1	pyruvate dehydrogenase E1 subunit alpha 1	ENCODES a protein that exhibits pyruvate dehydrogenase (acetyl-transferring) activity (ortholog); INVOLVED IN pyruvate decarboxylation to acetyl-CoA (ortholog); PARTICIPATES IN citric acid cycle pathway; fumaric aciduria pathway; Leigh disease pathway; ASSOCIATED WITH Disease Progression (ortholog); ... (more) epilepsy (ortholog); genetic disease (ortholog); FOUND IN mitochondrial matrix (ortholog); mitochondrion (ortholog); protein-containing complex (ortholog)				Black Rat	55	symbol	gene, protein-coding, MODEL [RefSeq]
155238390	pdha1						Tropical Clawed Frog		symbol	gene, null
14034383	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	ENCODES a protein that exhibits pyruvate dehydrogenase (acetyl-transferring) activity (ortholog); INVOLVED IN pyruvate decarboxylation to acetyl-CoA (ortholog); PARTICIPATES IN citric acid cycle pathway; fumaric aciduria pathway; Leigh disease pathway; ASSOCIATED WITH Disease Progression (ortholog); ... (more) epilepsy (ortholog); genetic disease (ortholog); FOUND IN mitochondrial matrix (ortholog); pyruvate dehydrogenase complex (ortholog); INTERACTS WITH calcium atom; calcium(0)				Pig	67	symbol	gene, protein-coding, MODEL [RefSeq]
18524580	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	ENCODES a protein that exhibits pyruvate dehydrogenase (acetyl-transferring) activity (ortholog); INVOLVED IN pyruvate decarboxylation to acetyl-CoA (ortholog); PARTICIPATES IN citric acid cycle pathway; fumaric aciduria pathway; Leigh disease pathway; ASSOCIATED WITH Disease Progression (ortholog); ... (more) epilepsy (ortholog); genetic disease (ortholog); FOUND IN mitochondrial matrix (ortholog); mitochondrion (ortholog); protein-containing complex (ortholog)				Green Monkey	55	symbol	gene, protein-coding, MODEL [RefSeq]
155233599	pdha1.L						African Clawed Frog		symbol	gene, null
155247187	pdha1.S						African Clawed Frog		symbol	gene, null
7175945	PDHA1P1	PDHA1 pseudogene 1		3	57800054	57801449	Human		symbol , COSMIC , name , Human Proteome Map	gene, pseudo, INFERRED [RefSeq]
1590190	Pdha1l1	pyruvate dehydrogenase (lipoamide) alpha 1-like 1	INTERACTS WITH cadmium dichloride; gentamycin; ozone	16	89213172	89216067	Rat	5	symbol , PhenoGen	gene, pseudo, INFERRED [RefSeq]