Gene: [19p132/GCDH] glutaryl-CoA dehydrogenase; glutaricaciduria I (glutaryl-CoA dehydrogenase deficiency);
|
COM |
Glutaryl-CoA dehydrogenase gene was assigned to Chr 19p132 by in situ hybridization and somatic cell hybrid analysis (Greenberg-1994,1995)." |
|
FUN |
The reaction catalyzed: glutaryl-CoA + acceptor = = crotonoyl-CoA + CO(2) + reduced acceptor." |
|
FAG |
On other enzymes from acyl-CoA reductase group, see GEM:01p31/ACADM. |
|
CAG |
On glutaricaciduria II see GEM:15q2/ETFA. |
|
REF |
PHE,MEB,FOG "Amir &: Neurology, 37, 1654-1657, 1987 MUT "Anikster Y &: AJHG, 59, 1012-1018, 1996 PHE,MEB,FOG "Bennett &: Eur J Pediatr, 145, 403-405, 1986 MUT "Biery BJ, Goodman SI: AJHG, 51, A165-165, 1992 IDN,PHE,PAT "Brandt &: Clin Genet, 13, 77-80, 1978 PND "Christensen E: Prenatal Diag, 14, 333-336, 1994 CLO,SEQ,MUT "Goodman SI &: Hum Mol Genet, 4, 1493-1498, 1995 PND "Goodman SI &: AJHG, 32, 695-699, 1980 IDN,PHE,PAT "Goodman SI &: Biochem Med, 12, 12-21, 1975 IDN,PHE,PAT "Goodman SI &: AJHG, 26, 36A, 1974 CLO,LOC "Greenberg CR &: Hum Mol Genet, 4, 493-495, 1995 CLO,LOC "Greenberg CR &: Genomics, 21, N1, 289-290, 1994 PAT "Hoffmann GF &: J Inherit Metab Dis, 18, 173-176, 1995 PAT "Kyllerman M &: Movement Disorders, 9, 22-30, 1994 PHE,MEB,FOG "Leibel &: Neurology, 30, 1163-1168, 1980 PAT "Merinero B &: Neuropediat, 26, 238-242, 1995 PHE,MEB,FOG "Stutchfield &: Dev Med Child Neurol, 27, 514-521, 1985 |
|
KEY |
neu, mtbd, mito, lip |
|
CLA |
coding, basic |
|
LOC |
19 p13.2 |
|
MIM |
MIM: 231670 |
|
EZN |
ENZYME: 1.3.99.7 |
Смотрите также:
