Gene: [03p21/GCST] glycine cleavage system protein T; aminomethyltransferase; tetrahydrofolate aminomethyltransferase; hyperglycinemia, isolated nonketotic, type II;


FUN

The reaction catalyzed:
(6S)-tetrahydrofolate + S-aminomethyldihydrolipoylprotein =
(6R)-5,10-methylenetetrahydrofolate + NH(3) + dihydrolipoylprotein."

REF

CLO,SEQ "Hayasaka K &: BBRC, 192, N2, 766-771, 1993
CLO,SEQ,STR,LOC "Nanao K &: Genomics, 19, 27-30, 1994a
MUT "Nanao K &: Hum Genet, 93, 655-658, 1994b

KEY

aac

CLA

coding, basic

LOC

03 p21.3-.2

MIM

MIM: 238310

EZN

ENZYME: 2.1.2.10

Смотрите также:

  • Gene: [13q32/PCCA] propionyl-CoA carboxylase, alpha polypeptide; glycinemia ketotic I (propionicacidemia I);
  • Gene: [09p2/GCSP] glycine cleavage system protein P; glycine dehydrogenase (decarboxylating); glycine decarboxylase; hyperglycinemia, isolated nonketotic, type I;
  • аминометилтрансфераза-HUGEN