POGLUT1
From Wikipedia, the free encyclopedia
Protein O-Glucosyltransferase 1 is an enzyme which is encoded by the gene POGLUT1.[5]
AliasesPOGLUT1, C3orf9, CLP46, KDELCL1, KTELC1, MDSRP, Rumi, hCLP46, MDS010, protein O-glucosyltransferase 1, LGMD2Z, LGMDR21
External IDsOMIM: 615618; MGI: 2444232; HomoloGene: 41353; GeneCards: POGLUT1; OMA:POGLUT1 - orthologs
Gene
The POGLUT1 gene is located on the long arm (q) of chromosome 3 on position 13.33, from base pair from base pair 119,468,963 to base pair 119,494,708.[6]
Function
This enzyme is located in the endoplasmic reticulum (ER), which has O-glucosyltransferase activity on Notch proteins.[7]
Clinical significance
Mutations in this gene causes autosomal recessive form of Limb-Girdle muscular dystrophy and Dowling-Degos disease.[8][9]