Primary Identifier | MGI:101900 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 17387 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables metalloendopeptidase activity. Involved in several processes, including negative regulation of Notch signaling pathway; positive regulation of cell differentiation; and positive regulation of macrophage migration. Acts upstream of or within several processes, including chondrocyte proliferation; collagen catabolic process; and skeletal system morphogenesis. Predicted to be located in several cellular components, including cytosol; intermediate filament cytoskeleton; and macropinosome. Predicted to be active in extracellular space and plasma membrane. Predicted to colocalize with cytoplasm. Is expressed in several structures, including embryo mesenchyme; genitourinary system; heart; musculoskeletal system; and sensory organ. Used to study rheumatoid arthritis. Human ortholog(s) of this gene implicated in Winchester syndrome; esophagus adenocarcinoma; and myocardial infarction. Orthologous to human MMP14 (matrix metallopeptidase 14). PHENOTYPE: Nullizygous mutations may lead to postnatal or premature death, craniofacial anomalies, skeletal dysplasia, low body weight, reduced bone formation and chondrocyte proliferation, arthritis, and fibrosis as well as defects in angiogenesis and lung, tooth,kidney, and submaxillary gland development. [provided by MGI curators] |