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

Ссылки: