Gene: [09p2/GCSP] glycine cleavage system protein P; glycine dehydrogenase (decarboxylating); glycine decarboxylase; hyperglycinemia, isolated nonketotic, type I;
FAG | [1] The
mitochondrial glycine cleavage system is a multienzyme system composing of
four proteins: protein P, protein T (GEM:03p21/GCST), protein L (GEM:00.0/GCSL), and protein H (GEM:00.0/GCSH). Defects in each of these proteins may
account for some cases of the nonketonic hyperglycinemia. [2] Isobe-1994 assigned a processed pseudogene to 4q12 (GEM:04q12/GCSPP)." |
FUN | [1] The reaction
catalyzed: glycine + lipoylprotein = S-aminomethyldihydrolipoylprotein +
CO(2). [2] Cofactor: pyridoxal-phosphate." |
REF | CLO "Burton BK &: Am J
Med Genet, 32, 504-505, 1989 PND "Hayasaka K &: J Pediatr, 116, 444-445, 1990 CLO,LOC "Isobe M &: BBRC, 203, 1483-1487, 1994 CLO,SEQ "Kume A &: JBC, 266, 3323-3329, 1991 MUT "Kure S &: J Clin Invest, 90, 160-164, 1992 CLO,SEQ "Kure S &: BBRC, 174, 1176-1182, 1991 CLO,GEN,MUT "Tada K &: J Inherit Metab Dis, 13, 766-770, 1990 PND "Toone JR &: J Inherit Metab Dis, 17, 342-344, 1994 TER "van Hove JLK &: Am J Med Genet, 59, 444-453, 1995 |
SWI | SWISSPROT: P23378 |
KEY | aac, vit |
CLA | coding, basic |
LOC | 09 p24-23 |
MIM | MIM: 238300 |
EZN | ENZYME: 1.4.4.2 |
