Disease-gene associations mined from literature

Literature associating GALE and Noonan syndrome 8

GALE [ENSP00000483375]

UDP-N-acetylgalactosamine 4-epimerase; Catalyzes two distinct but analogous reactions: the reversible epimerization of UDP-glucose to UDP-galactose and the reversible epimerization of UDP-N-acetylglucosamine to UDP-N- acetylgalactosamine. The reaction with UDP-Gal plays a critical role in the Leloir pathway of galactose catabolism in which galactose is converted to the glycolytic intermediate glucose 6- phosphate. It contributes to the catabolism of dietary galactose and enables the endogenous biosynthesis of both UDP-Gal and UDP- GalNAc when exogenous sources are limited. Both UDP-sugar interconversions are important in the synthesis of glycoproteins and glycolipids; Short chain dehydrogenase/reductase superfamily

Synonyms:  GALE,  Q14376,  Q5QPP1,  Q5QPP3,  Q5QPP4 ...

Linkouts:  STRING  Pharos  UniProt