Primary Identifier | MGI:1354695 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 50754 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including cyclin binding activity; phosphothreonine residue binding activity; and ubiquitin protein ligase binding activity. Involved in several processes, including SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; negative regulation of osteoclast development; and positive regulation of proteolysis involved in protein catabolic process. Acts upstream of or within several processes, including Notch signaling pathway; protein destabilization; and vasculogenesis. Located in several cellular components, including Golgi apparatus; nucleolus; and perinuclear region of cytoplasm. Is expressed in central nervous system; early conceptus; genitourinary system; and skeletal muscle tissue. Human ortholog(s) of this gene implicated in developmental delay, hypotonia, and impaired language. Orthologous to human FBXW7 (F-box and WD repeat domain containing 7). PHENOTYPE: Homozygous inactivation of this locus disrupts embryonic and extraembryonic vasculature, resulting in death by midgestation. [provided by MGI curators] |