Primary Identifier | MGI:2153207 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 140484 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable peptide-O-fucosyltransferase activity. Involved in Notch signaling pathway. Acts upstream of or within circulatory system development; nervous system development; and somitogenesis. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum. Is expressed in brain; embryo; skeletal muscle tissue; and skeletal musculature. Human ortholog(s) of this gene implicated in Dowling-Degos disease. Orthologous to human POFUT1 (protein O-fucosyltransferase 1). PHENOTYPE: Homozygous mutant mice die by midgestation displaying malformations of the somites, vasculature, heart, and nervous system. [provided by MGI curators] |