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

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