Gene: [17q2/GALK1] galactokinase 1 (galactosemia II); cataract/galactosemia II;

FUN

[1] Systematic name: ATP:D-galactose 1-phosphotransferase.
[2] The reaction catalyzed: ATP + D-galactose = ADP + alpha-D-galactose 1-phosphate."

REL

GEM:15^/GALK2.

REF

HIS,PHE,PAT,MEB,FOG "Beutler &: New Engl J Med, 288, 1203-1206, 1973
HIS,PHE,PAT,MEB,FOG "Cook &: Arch Dis Child, 46, 465-469, 1971
LIN,MAP "de Jonge AJ &: Hum Genet, 69, 32-38, 1985
LOC,CYG "Elsevier SM &: Nature, 251, 633-635, 1974
HIS,PHE,PAT,MEB,FOG "Gitzelmann R: Pediatr Res, 1, 14-23, 1967
PAT,PHE,FOG,POP "Magnani &: Hum Hered, 32, 274-279, 1982
HIS,PHE,PAT,MEB,FOG "Mayes, Guthrie: Biochem Genet, 2, 219-230, 1968
PAT,PHE,FOG,POP "Soni &: AJHG, 42, 96-103, 1988
HIS,PHE,PAT,MEB,FOG "Thalhammer &: Pediatrics, 42, 441-445, 1968
LIN,MAP "Xu WM &: PNAS, 85, N22, 8563-8567, 1988

KEY

carb, eye, mtbd

CLA

coding, basic

LOC

17 q23-25

MIM

MIM: 230200

EZN

ENZYME: 2.7.1.6

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