Gene: [11q2/ACAT1] acetyl-CoA acetyltransferase 1 (acetoacetyl Coenzyme A thiolase); alpha-methylacetoaceticaciduria (beta-ketothiolase deficiency);
REL | GEM:06q2/ACAT2. |
REF | SEQ,MUT "Fukao T &:
Hum Mut, 5, 94-96, 1995 SEQ,MUT "Fukao T &: Hum Mut, 2, 214-220, 1993 CLO,SEQ "Fukao T &: J Clin Invest, 86, 2086-2092, 1990 CLO,SEQ,STR "Kano M &: Gene, 109, 285-290, 1991 SEQ,MUT "Kuwahara T &: Hum Genet, 90, 208-210, 1992 LOC "Masuno M &: CCG, 60, 121-122, 1992 LOC "Smith MW &: Genomics, 17, 699-725, 1993 SEQ,MUT "Wakazono A &: Hum Mut, 5, 34-42, 1995 |
SWI | SWISSPROT: P24752 |
KEY | lip, mtbd, mito |
CLA | coding, basic |
LOC | 11 q22.3-23.1 |
MIM | MIM: 203750 |
EZN | ENZYME: 2.3.1.9 |
