Gene: [19p133/GAMT] guanidinoacetate N-methyltransferase; guanidinoacetate N-methyltransferase deficiency;

GEN

The gene length: 5 kb (approximately); exons: 6 (Jenne-1997).

REF

CLO,SEQ "Isbrandt D, von Figura K: BBA, 1264, 265-267, 1995
GEN,LOC,EAG "Jenne DE &: BBRC, 238, 723-727, 1997
MUT "Stockler S &: AJHG, 58, 914-922, 1996
PAT "Stockler S &: Pediatr Res, 36, 409-413, 1994

KEY

nucm

CLA

coding, basic

LOC

19 p13.3

MIM

MIM: 601240

EZN

ENZYME: 2.1.1.2