Gene: [15q1/ACADI] isovaleryl coenzyme A dehydrogenase; isovalericacidemia;
FUN | Systematic name: 3-methylbutanoyl-CoA:(acceptor) oxidoreductase. The catalyzed reaction: 3-methylbutanoyl-CoA + ETF = 3-methylbut-2-enoyl-CoA + reduced ETF." |
FAG | See GEM:01p31/ACADM. |
EVO | See GEM:01p31/ACADM. |
REF | PAT,PHE,MEB,FOG "Budd &: New Engl J Med, 277, 321-327,
1967 TER "Cohn &: New Engl J Med, 299, 996-999, 1978 TER "DeSousa &: Eur J Pediatr, 144, 451-456, 1986 PAT,PHE,MEB,FOG "Dubiel &: J Clin Invest, 72, 1543-1552, 1983 PAT,PHE,MEB,FOG "Duran &: Eur J Pediatr, 131, 205-211, 1979 PAT,PHE,MEB,FOG "Efron ML: Am J Dis Child, 113, 74-76, 1967 PRO,LOC,MOL "Kraus JP &: Genomics, 1, 264-269, 1987 PAT,PHE,MEB,FOG "Newman &: Lancet, 2, 439-441, 1967 PAT,PHE,MEB,FOG "Rhead, Tanaka: PNAS, 77, 580-583, 1980 PAT,PHE,MEB,FOG "Sidbury &: J Pediatr, 70, 8-15, 1967 MEB,PAT,PRO,LOC,FAG "Tanaka K &: Enzyme, 38, 91-107, 1987 PAT,PHE,MEB,FOG "Tanaka K &: PNAS, 56, 236-242, 1966 |
SWI | SWISSPROT: P26440 |
KEY | neu, mtbd, mito |
CLA | coding, basic |
LOC | 15 q14-15 |
MIM | MIM: 243500 |
EZN | ENZYME: 1.3.99.10 |
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