DISEASES

Disease-gene associations mined from literature

Literature associating UGDH and classic galactosemia

UGDH [ENSP00000319501]

UDP-glucose 6-dehydrogenase; Catalyzes the formation of UDP-alpha-D-glucuronate, a constituent of complex glycosaminoglycans (PubMed:21961565, PubMed:21502315, PubMed:23106432, PubMed:22123821, PubMed:25478983, PubMed:27966912, PubMed:30420606, PubMed:30457329). Required for the biosynthesis of chondroitin sulfate and heparan sulfate. Required for embryonic development via its role in the biosynthesis of glycosaminoglycans (By similarity). ECO:0000269|PubMed:21502315, ECO:0000269|PubMed:21961565, ECO:0000269|PubMed:22123821, ECO:0000269|PubMed:23106432, ECO:0000269|PubMed:25478983, ECO:0000269|PubMed:27966912,; Belongs to the UDP-glucose/GDP-mannose dehydrogenase family.

Synonyms:  UGDH,  D6RHF4,  E7ER83,  E7ER95,  E7ETF4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM