Gene: [11q13/CPT1A] carnitine palmitoyltransferase I, liver; hypoglycemia, hypoketotic (deficiency of carnitine palmitoyltransferase I; MIM:255120);
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COM |
Formerly CPT1 gene was considered to be mapped to Chr 1. Now, after elucidation by Britton-1995, it is clear that the gene mapped to Chr 1 was CPT2 (GEM:01p32/CPT2). See also GEM:22q133/CPT1B." |
|
FUN |
[1] Participates in initial step of the mitochondrial oxidation of
long-chain fatty acids.
[2] Systematic name: palmitoyl-CoA:L-carnitine O-palmitoyltransferase. Reaction catalyzed: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine." |
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REF |
LOC "Britton CH &: Genomics, 40, N1, 209-211, 1997 COD,SEQ,LOC,FAG,EVO "Britton CH &: PNAS, 92, N6, 1984-1988, 1995 PAT "Falik-Borenstein ZC &: New Engl J Med, 327, 24-27, 1992 PAT "Haworth JC &: J Pediatr, 121, 553-557, 1992 |
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KEY |
myo, mtbd, lip, mito |
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CLA |
coding, basic |
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LOC |
11 q13.1-.5 |
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MIM |
MIM: 600528 |
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EZN |
ENZYME: 2.3.1.21 |
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