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

Смотрите также:

  • ацетил-CoA-ацилтрансфераза-HUGEN
  • тиолаза-HUGEN
  • ацетоацетил-CoA-тиолаза-HUGEN