Gene: [03p2/ACAA] acetyl-CoA acyltransferase (beta-ketothiolase); peroxisomal 3-oxoacyl-CoA thiolase; pseudo-Zellweger syndrome;
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FUN |
Systematic name: acyl-CoA:acetyl-CoA C-acyltransferase. The reaction catalyzed: acyl-CoA + acetyl-CoA = CoA + 3-oxoacyl-CoA." |
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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." |
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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 |
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KEY |
lip, neu, mtbd |
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CLA |
coding, basic |
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LOC |
03 p23-22 |
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MIM |
MIM: 261510 |
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EZN |
ENZYME: 2.3.1.16 |
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