Gene: [00.0/MCCA] methylcrotonyl-CoA carboxylase, alpha (MCCA deficiency); methylcrotonylglycinuria I (MCC deficiency I);
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COM |
The gene is not identified yet, and it is only by analogy with the data on other mammals (as well as by analogy with another biotin-related enzyme PPC) that one may suppose the human methylcrotonyl-CoA carboxylase to consist also of two subunits encoded by different genes." |
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FUN |
The reaction catalyzed: ATP + 3-methylcrotonyl-CoA + HCO(3-) = = ADP + orthophosphate + 3-methylglutaconyl-CoA." |
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FAG |
On other mitochondrial biotin-dependent carboxylases, see GEM:17q21/ACACA and GEM:12q/ACACB." |
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REF |
IDN,PAT,PHE,FOG "Eldjarn &: Lancet, 1, 521-522, 1970 IDN,PAT,PHE,FOG "Gompertz &: FEBS Lett, 32, 13-14, 1973 IDN,PEP,STR "Lau &: PNAS, 76, 214-218, 1979 IDN,PAT,PHE,FOG "McLean, Stewart: J Med Genet, 11, 257-269, 1974 IDN,PAT,PHE,FOG "Stokke &: Pediatrics, 49, 726-735, 1972 REV,PAT "Sweetman, Nyhan: Annu Rev Nutr, 6, 317-343, 1986 REV,PAT "Wolf, Feldman: AJHG, 34, 699-716, 1982 |
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KEY |
neu, mtbd, mito, aac |
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CLA |
coding, basic |
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LOC |
RS |
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MIM |
MIM: 210200 |
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EZN |
ENZYME: 6.4.1.4 |
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