Gene: [12p1/BCAT1] branched chain aminotransferase 1, cytosolic; transaminase 1 of branched chain amino acids (BCAA); hyperleucinemia-isoleucinemia (BCAA transaminase 1 deficiency);
COM | [1] The
Enzymes Nomenclature registered three enzymes that have similar function
but more narrow substrate specificity, as compared to thiose of AAP. These
are 2.6.1.6 - leucine aminotransferase, 2.6.1.32 -
valine-3-methyl-2-oxovalerate aminotransferase or valine-isoleucine
aminotransferase, and 2.6.1.66 - valine-pyruvate aminotransferase
(transaminase C). [2] All HGM catalogues (since HGM5-1979) and GDB erroneously indicate code EC:2.6.1.26 for branched-chain amino acid transferases; this code actually corresponds to another enzyme, thyroid-hormone aminotransferase." |
FUN | Systematic name: branched-chain-amino-acid:2-oxoglutarate aminotransferase. The catalyzed reaction: L-leucine + 2-oxoglutarate = 4-methyl-2-oxopentanoate + L-glutamate. Other substrates are L-isoleucine and L-valine." |
FAG | A gene for AAP-2 isoenzyme is mapped in Chr 19 (GEM:19^/BCAT2). |
HET | [1] Among all diseases
that are related with the accumulation of branched-chain amino acids,
isolated hypervalinemia is the most well-studied (MIM:277100; Wada-1963;
Dancis-1967; Tada-1967). The disease is thought to be determined by an
isolated defect of valine transamination. The defect is possibly accounted
for by either deficiency of yet unidentified valine aminitransferase or a
mutation in the AAP active center that impedes binding of valine but not
leucine and isoleucine. [2] A case of familial pathology with accumulation of isoleucine, leucine, and proline accumulation but normal valine level (hyperleucinme-isoleucinemia; MIM:238340) was described (Jeune-1970). This disease is assumed to be caused by at least two independent genetic defects - AAP deficiency and disturbance of proline degradation." |
REF | PAT,PHE,MEB,FOG "Dancis, Levitz: (in) MBID, 4th
ed, pp.397-410, 1978 HET,PHE,PAT "Dancis &: Pediatrics, 39, 813-817, 1967 CLO,SEQ "Eden A &: JBC, 271, N34, 20242-20245, 1996 FUN,PEP "Goto &: Gann, 68, 663-667, 1977 PAT,PHE,MEB,FOG "Jeune &: Ann Pediatr, 17, 85-99, 1970 LOC,CYG "Jones C, Moore: Hum Genet, 66, 206-211, 1984 LOC,CYG "Jones C, Moore: CCG, 25, (HGM5), 168, 1979 LOC,CYG "Naylor SL, Shows: Somat Cell Genet, 6, N5, 641-652, 1980 LOC,CYG "Naylor SL, Shows: CCG, 25, (HGM5), 191-192, 1979 HET,PHE,PAT "Tada &: Am J Dis Child, 113, 64-67, 1967 HET,PHE,PAT "Wada &: Tohoku J Exp Med, 81, 46-55, 1963 |
SWI | SWISSPROT: P54687 |
KEY | aac, mtbd |
CLA | coding, basic |
LOC | 12 p1 |
MIM | MIM: 113520 |
EZN | ENZYME: 2.6.1.42 |
