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

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