Biochemistry, Department of


Date of this Version



THE JOURNAL OF BIOLOGICAL CHEMISTRY VOL. 287, NO. 39, pp. 32708–32716, September 21, 2012

DOI 10.1074/jbc.M112.395202


© 2012 by The American Society for Biochemistry and Molecular Biology, Inc


Background: UDP-glucose dehydrogenase (UGDH) polymorphisms were identified in a screen of candidate genes for heart valve defects.

Results: Two individual mutants fail to rescue cardiac valve defects in UGDH-deleted zebrafish and have reduced stability in vitro.

Conclusion: UGDH loss of function mutations result in a subset of human congenital cardiac valve defects caused by reduced enzyme activity during morphogenesis.

Significance: Screening these alleles could predict valve defects.