Gene: [01p32/CPT2] carnitine palmitoyltransferase II (deficiency: myopathy); myopathy with deficiency of carnitine palmitoyltransferase II (mild late-onset myopathic form; MIM:255110); hypoglycemia, hypoketotic, with deficiency of carnitine palmitoyltransferase II (severe neonatal form; MIM:600649);
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COM |
The initial assignment the CPT gene to 1pter-q12 (Finocchiaro-1991) was refined as 1p13-11 (Minoletti-1992) and as 1p32 (Gellera-1994). All 3 groups referred to it as CPT1. Now, after elucidation by Britton et al., it is clear that the gene mapped to Chr 1 was CPT2. CPT1 is mapped by Britton-1995, Britton-1997 to Chr 11 (GEM:11q13/CPT1A). See also GEM:22q133/CPT1B." |
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FUN |
[1] Participates in initial step of the mitochondrial oxidation of
long-chain fatty acids.
[2] Systematic name: palmitoyl-CoA:L-carnitine O-palmitoyltransferase. [3] Reaction catalyzed: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine." |
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REF |
PHE,PAT,FOG,MGC "Angelini C &: Neurology, 31, 883-886, 1981 MUT,PAT "Bonnefont J-P &: AJHG, 58, 971-978, 1996 LOC "Britton CH &: Genomics, 40, N1, 209-211, 1997 NOM,FAG,EVO "Britton CH &: PNAS, 92, N6, 1984-1988, 1995 PHE,PAT,FOG,MGC "Cumming WJK &: J Neurol Sci, 30, 247-258, 1976 FUN,PEP "Derrick JP &: Biochem Soc Trans, 14, 698, 1986 PHE,PAT,FOG,MGC "DiDonato S &: J Neurol Sci, 50, 207-215, 1981 PHE,PAT,MEB "DiMauro S, DiMauro PMM: Science, 182, 929-931, 1973 PHE,PAT,MEB "Engel WK &: New Engl J Med, 282, 697-704, 1970 CLO,SEQ,COD,LOC "Finocchiaro G &: PNAS, 88, 661-665, 1991 LOC,MOL,CYG "Gellera C &: Genomics, 24, N1, 195-197, 1994 MUT,FOG "Handig I &: Hum Genet, 97, 291-293, 1996 FUN,PEP "Healy MJ &: Biochem J, 249, N1, 231-237, 1988 PHE,PAT,MEB "Kieval R &: Arch Neurol, 46, 575-576, 1989 PHE,PAT,MEB "Meola G &: J Neurol, 235, 74-79, 1987 LOC,MOL,CYG "Minoletti F &: Genomics, 13, N4, 1372-1374, 1992 IDN,FUN,PEP "Miyazawa S &: J Biochem, 94, 529-542, 1983 PHE,PAT,MEB "Murthy MSR, Pande SV: PNAS, 84, 378-382, 1987 MUT,PAT "Taroni F &: Nature Genet, 4, N3, 314-320, 1993 MUT,MOL,PAT "Taroni F &: PNAS, 89, 8429-8433, 1992 CLO,SEQ,GEN,MUT,PAT "Verderio E &: Hum Mol Genet, 4, 19-29, 1995 MUT,PAT "Yamamoto S &: Hum Genet, 98, 116-118, 1996 |
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KEY |
myo, mtbd, lip, mito |
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CLA |
coding, basic |
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LOC |
01 p32 |
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MIM |
MIM: 600650 |
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EZN |
ENZYME: 2.3.1.21 |
