Gene: [03p2/ACAA] acetyl-CoA acyltransferase (beta-ketothiolase); peroxisomal 3-oxoacyl-CoA thiolase; pseudo-Zellweger syndrome;

FUN

Systematic name: acyl-CoA:acetyl-CoA C-acyltransferase. The reaction catalyzed: acyl-CoA + acetyl-CoA = CoA + 3-oxoacyl-CoA."

PAT

Many clinical and biochemical characteristics of the acetyl-CoA acyltransferase deficiency are similar to those of Zellweger syndrome. However, in this case Goldfischer-1986 and Schram-1987 revealed only an isolated loss of one of peroxisomal functions (the peroxisomal 3-oxoacyl-CoA thiolase deficiency), whereas in Zellweger syndrome the peroxisomal disturbances are generalized."

REF

PRO,LOC,MOL,CYG "Bout &: CCG, 51, (HGM10), 966, 1989
PRO,LOC,MOL,CYG "Bout A &: CCG, 52, 147-150, 1989
PAT,PHE "Goldfischer &: J Pediatr, 108, 25-32, 1986
PRO,POL,LOC,REL "Naylor SL &: CCG, 58, (HGM11), 1879, 1991
PRO,POL,LOC,REL "Ottone F &: CCG, 58, (HGM11), 1880, 1991
FUN,MEB,PAT "Schram &: PNAS, 84, N8, 2494-2496, 1987

KEY

lip, neu, mtbd

CLA

coding, basic

LOC

03 p23-22

MIM

MIM: 261510

EZN

ENZYME: 2.3.1.16

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