Gene: [12q2/ACADS] acyl-CoA dehydrogenase S (FA short straight-chain C2/C6); butyryl-CoA dehydrogenase (ethylen reductase); lipid-storage myopathy, secondary to SCADh deficiency;
MOP | The molecular product is a flavoprotein. |
FAG | On other acyl-CoA dehydrogenases, see GEM:01p31/ACADM. |
HET | On the classification of numerous genetic disorders of mitochondrial fatty acid beta-oxidation, see GEM:01p31/ACADM and GEM:0X^/ACADX." |
REF | PHE,PAT,MEB,FOG
"Amendt &: J Clin Invest, 79, 1303-1309, 1987 PHE,PAT,MEB,FOG "Coates &: J Clin Invest, 81, 171-175, 1988 IDN,PEP,EVO "Finocchiaro &: JBC, 262, 7982-7989, 1987 REV,MEB,PAT,FAG "Tanaka K &: Enzyme, 38, 91-107, 1987 PHE,PAT,MEB,FOG "Turnbull &: New Engl J Med, 311, 1232-1236, 1984 |
SWI | SWISSPROT: P16219 |
KEY | neu, mtbd, mito, lip |
CLA | coding, basic |
LOC | 12 q22-t |
MIM | MIM: 201470 |
EZN | ENZYME: 1.3.99.2 |
Смотрите также:
