Results for "Defect Of Vertebral Segmentation": 3 genes

Name

MPDU1 Gene

mannose-P-dolichol utilization defect 1

This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. Mutations in this gene result in congenital disorder of glycosylation type If. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]

ASD1 Gene

atrial septal defect 1

AVSD1 Gene

atrioventricular septal defect 1