Gene: POGLUT1

Alternate names for this Gene: C3orf9|CLP46|KDELCL1|KTELC1|LGMD2Z|LGMDR21|MDS010|MDSRP|Rumi|hCLP46

Gene Summary: This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention signal. This gene is an essential regulator of Notch signalling and likely plays a role in cell fate and tissue formation during development. It may also play a role in the pathogenesis of leukemia. Mutations in this gene have been associated with the autosomal dominant genodermatosis Dowling-Degos disease 4. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 3

Location in Chromosome : 3q13.33

Description of this Gene: protein O-glucosyltransferase 1

Type of Gene: protein-coding

rs3088258 in POGLUT1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs550944082 in POGLUT1 gene and MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 PMID 27807076 2016 A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.