POGLUT1Protein O-Glucosyltransferase 1 is an enzyme which is encoded by the gene ''POGLUT1.''GeneThe POGLUT1 gene is located on the long arm of chromosome 3 on position 13.33, from base pair from base pair 119,468,963 to base pair 119,494,708.FunctionThis enzyme is located in the endoplasmic reticulum, which has O-glucosyltransferase activity on Notch proteins.Clinical significanceMutations in this gene causes autosomal recessive form of Limb-Girdle muscular dystrophy and Dowling-Degos disease.