Gene: [17q21/ACACA] acetyl-CoA carboxylase alpha (265kD; EC:6.4.1.2); biotin carboxylase (EC:6.3.4.14); acetyl-CoA carboxylase deficiency;
|
FAG |
[1] The enzyme is assigned to the group of mitochondrial biotin-dependent
carboxylases. For four of them, hereditary deficiencies are known
(isolated ones and a multiple deficiency), which are accompanied by
disturbances in the biosynthesis of branched-chain amino acids (leucine
degradation pathway) and long-chain fatty acids. Those are: pyruvate
carboxylase (GEM:11q13/PC), propionyl-CoA
carboxylase (GEM:13q32/PCCA and
GEM:03q2/PCCB), and 3-methylcrotonyl-CoA
carboxylase (GEM:00.0/MCCA and
GEM:00.0/MCCB) deficiencies.
[2] On beta polypeptide of acetyl-CoA carboxylase see GEM:12q/ACACB." |
|
GEN |
The gene length is 50 kb. |
|
REF |
COD,SEQ,LOC "Abu-Elheiga L &: PNAS, 92, 4011-4015, 1995 IDN,PAT,PHE "Blom &: New Engl J Med, 305, 465-466, 1981 PRO,EXP,RAT "Lopez-Casillas &: PNAS, 85, N16, 5784-5788, 1988 GEN,SEQ,COD,TRC "Luo &: PNAS, 86, N11, 4042-4046, 1989 LOC,PRO "Milatovich A &: CCG, 48, 190-192, 1988 REV,PAT "Sweetman, Nyhan: Annu Rev Nutr, 6, 317-343, 1986 IDN,PEP,RAT "Tanabe &: Eur J Biochem, 57, 15-24, 1975 REV,PAT "Wolf, Feldman: AJHG, 34, 699-716, 1982 |
|
KEY |
neu, mtbd, mito, aac |
|
CLA |
coding, basic |
|
LOC |
17 q21 |
|
MIM |
MIM: 200350 |
|
EZN |
ENZYME: 6.4.1.2 |
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