Gene: [0Xp221/PDHA1] pyruvate dehydrogenase, E1 alpha polypeptide 1;
FUN | [1]
Pyruvate dehydrogenase is a mitochondrial multienzyme complex that
catalyzes the oxidative decarboxylation of pyruvate and is one of the major
enzymes responsible for the regulation of homeostasis of carbohydrate fuels
in mammals. The enzymatic activity is regulated by a
phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a
specific pyruvate dehydrogenase kinase (see GEM:00.0/PDK1) results in inactivation. [2] Systematic name: pyruvate:lipoamide 2-oxidoreductase (decarboxylating and acceptor-acetylating). [3] The reaction catalyzed: pyruvate + lipoamide = S-acetyldihydrolipoamide + CO(2)." |
FAG | [1] A homologue of
this gene was mapped to chr 4 (GEM:04q2/PDHA2). The gene for pyruvate dehydrogenase
beta subunit has been mapped to chr 3 (GEM:03^/PDHB). [2] On the genes coding pyruvate dehydrogenase kinase isoenzymes see in: GEM:00.0/PDK1." |
REF | LOC,PRO,FAG "Brown &:
CCG, 51, (HGM10), 970, 1989 MUT,POL "Dahl HH &: Hum Genet, 87, N1, 49-53, 1991 PRO,SEQ,EXP "Dahl HH &: JBC, 262, 7398-7403, 1987 PRO,COD,SEQ,MUT,PAT "Endo H &: AJHG, 44, 358-364, 1989 PRO,COD,SEQ,FAG "Koike K &: PNAS, 85, N1, 41-45, 1988 LOC,FAG "Olson S &: AJHG, 46, N2, 340-349, 1990 |
SWI | SWISSPROT: P08559 |
KEY | mito, carb, lip |
CLA | coding, basic |
LOC | 0X p22.1 |
MIM | MIM: 312170 |
EZN | ENZYME: 1.2.4.1 |
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