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

Ссылки: