Gene: [06p2/BCKDE1B] 2-oxoisovalerate dehydrogenase (lipoamide), beta polypeptide; branched chain keto acid dehydrogenase E1, beta polypeptide; maple syrup urine disease (due to BCK-E1-beta deficiency);
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FAG |
The branched-chain ketoacid dehydrogenase alpha subunit gene have been mapped to chromosome 19; see also GEM:19q132/BCKDE1A." |
|
FUN |
The holoenzyme functions as a component of multienzyme complex BCKD, which decarboxylates branched chain keto acids, adds them to coenzyme A, and synthesizes NADH." |
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PAT |
See GEM:19q132/BCKDE1A. |
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REF |
CLO,SEQ "Chuang JL &: FEBS Lett, 262, 305-309, 1990 PAT,PHE,MEB "Indo Y &: J Clin Invest, 80, N1, 63-70, 1987 LOC,FAG "Zneimer SM &: Genomics, 10, N3, 740-747, 1991 |
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KEY |
neu, mtbd, aac, lip, mito |
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CLA |
coding, basic |
|
LOC |
06 p22-21 |
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MIM |
MIM: 248611 |
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EZN |
ENZYME: 1.2.4.4 |
