Gene: [09p13/GALT] galactose-1-phosphate uridylyltransferase; galactosemia I (GALT deficiency);
FUN | Systematic name: UTP:alpha-D-hexose-1-phosphate uridylyltransferase. Catalyzes reaction: UTP + alpha-D-galactose 1-phosphate = pyrophosphate + UDP-galactose. Alpha-D-glucose 1-phosphate can also act as acceptor, more slowly." |
REF | LOC,CYG "Aitken, Fergusson-Smith: CCG, 25, (HGM5),
131, 1979 LOC,CYG "Benn &: CCG, 26, 37-41, 1979 LOC,CYG "Bruns GA &: CCG, 22, (HGM4), 172-176, 1978 LOC,CYG "Kondo, Nakamura: CCG, 37, (HGM7), 514, 1984 LOC,CYG "Shih &: AJHG, 34, 62A, 1982 |
SWI | SWISSPROT: P07902 |
KEY | carb, mtbd |
CLA | coding, basic |
LOC | 09 p13 |
MIM | MIM: 230400 |
EZN | ENZYME: 2.7.7.10 |
