Gene: [19^/BCAT2] branched chain aminotransferase 2, mitochondrial; transaminase 2 of branched chain amino acids (BCAA); hyperleucine-isoleucinemia (BCAA transaminase 2 deficiency?);
COM | [1] The GDB
erroneously indicates, for transaminases of branched chain amino acids
(BCAA-1 isoform is encoded by gene GEM:12p1/BCAT1), the code EC:2.6.1.26, which
corresponds to thyroid hormone aminotransferase. [2] The Enzyme Nomenclature (EN-1984) registered three enzymes, which functions are similar with that of BCAA but subsstrate specificities are narrower: 2.6.1.6 - leucine aminotransferase, 2.6.1.32 - valine-3-methyl-2-oxovalerate aminotransferase (valine-isoleucine aminotransferase, 2.6.1.66 - valine-pyruvate aminotrasferase. Corresponding human genes are not described yet." |
FUN | Systematic name: branched-chain-amino-acid:2-oxoglutarate aminotransferase. The catalyzed reaction: L-leucine + 2-oxoglutarate = 4-methyl-2-oxopentanoate + L-glutamate. Also acts on L-isoleucine and L-valine." |
PAT | [1] A
familial type of hyperleucine-isoleucinemia with accumulation of
isoleucine, leucine, and proline in tissues is described (Jeune-1970;
MIM:238340). This pathology is assumed to be related with at least two
independent genetic defects: BCAA-2 (or BCAA-1) deficiency and altered
proline degradation. We registered BCAA-2 deficiency by presumption (see
GEM:12p1/BCAT1). [2] Hypervalinemia is described in more detail (MIM:277100; Wada-1963, Dancis-1967, Nada-1967). It is considered to be determined by an isolated defect of valine transamination. This type of hypervalinemia is possible to be related to the deficiency of valine aminotransferase, which is not presently identified in human, or to a mutation in the BCAA active center that prevents valine binding without decreasing the affinity to other branched chain amino acids (leucine and isoleucine)." |
REF | CLO,SEQ "Bledsoe RK &:
BBA, 1339, 9-13, 1997 REV,PAT,PHE,MEB,FOG "Dancis, Levitz: (in) MBID, 4th ed, pp.397-410, 1978 COM,PHE,PAT "Dancis &: Pediatrics, 39, 813-817, 1967 REV,PAT,PHE,MEB,FOG "Danner, Elsas: (in) MBID, 6th ed, pp.671-692, 1989 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 FAG "Jones C, Moore: Hum Genet, 66, 206-211, 1984 FAG "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 COM,PHE,PAT "Tada &: Am J Dis Child, 113, 64-67, 1967 COM,PHE,PAT "Wada &: Tohoku J Exp Med, 81, 46-55, 1963 |
SWI | SWISSPROT: O15382 |
KEY | aac, mtbd |
CLA | coding, basic |
LOC | 19 |
MIM | MIM: 113530 |
EZN | ENZYME: 2.6.1.42 |
