| Primary Identifier | MGI:2444232 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 224143 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables UDP-glucosyltransferase activity and UDP-xylosyltransferase activity. Involved in positive regulation of Notch signaling pathway; protein O-linked glycosylation via serine; and regulation of gastrulation. Acts upstream of or within several processes, including paraxial mesoderm development; regulation of Notch signaling pathway; and somitogenesis. Predicted to be located in endoplasmic reticulum lumen. Predicted to be active in endomembrane system. Is expressed in several structures, including brain; liver; metanephros; and musculature. Human ortholog(s) of this gene implicated in Dowling-Degos disease and autosomal recessive limb-girdle muscular dystrophy type 2Z. Orthologous to human POGLUT1 (protein O-glucosyltransferase 1). PHENOTYPE: Mice homozygous for a gene trapped allele exhibit complete embryonic lethality during organogenesis, embryonic growth retardation, caudal body truncation, and severe defects in neural tube development, somitogenesis, cardiogenesis, and vascular remodeling. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
