Gene: [02q31/GAD1] glutamate decarboxilase 1 (brain, 67kD); pyridoxine dependency with seizures (GAD deficiency);
|
FUN |
[1] The reaction catalyzed: L-glutamate = 4-aminobutanoate + CO(2).
[2] Cofactor: pyridoxal-phosphate." |
|
REL |
GEM:10p1123/GAD2; GEM:22q13/GAD3. |
|
REF |
HIS,PHE,PAT "Bachman DS: Ann Neurol, 14, 692-693, 1983 HIS,PHE,PAT "Bejsovec &: Arch Dis Child, 42, 201-207, 1967 LOC,PRO "Bu D-F: PNAS, 89, 2115-2119, 1992 LOC,PRO "Cram DS: BBRC, 176, N3, 1239-1244, 1991 PEP,FUN,RAT "Denner &: PNAS, 84, N3, 668-672, 1987 LOC,PRO "Edelhoff S: Genomics, 17, 93-97, 1993 SEQ,PEP,FAG "Erlander &: Neuron, 7, 91-100, 1991 HIS,PHE,PAT "Goutieres, Aicardi: Ann Neurol, 17, 117-120, 1985 HIS,PHE,PAT "Hunt &: Pediatrics, 13, 140-145, 1954 HIS,PHE,PAT "Scriver, Whelan: Ann NY Acad Sci, 166, 83-96, 1969 HIS,PHE,PAT "Scriver, Hutchison: Pediatrics, 31, 240-250, 1963 LOC,PRO "Sparkes &: CCG, 46, (HGM9), 696, 1987 HIS,PHE,PAT "Yoshida &: J Exp Med, 104, 195-198, 1971 |
|
KEY |
neu, aac, vit, mtbd |
|
CLA |
coding, basic |
|
LOC |
02 q31 |
|
MIM |
MIM: 266100 |
|
EZN |
ENZYME: 4.1.1.15 |
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