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

Лактацидоз

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