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 |
