| Primary Identifier | MGI:96817 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 16948 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein-lysine 6-oxidase activity. Involved in blood vessel morphogenesis. Acts upstream of or within several processes, including circulatory system development; extracellular matrix organization; and regulation of signal transduction. Located in extracellular matrix and extracellular region. Part of collagen trimer. Is expressed in several structures, including alimentary system; genitourinary system; heart and pericardium; limb; and sensory organ. Used to study Menkes disease and Williams-Beuren syndrome. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome; Menkes disease; colon adenocarcinoma; hypertension; and thoracic aortic aneurysm. Orthologous to human LOX (lysyl oxidase). PHENOTYPE: Homozygous inactivation of this gene leads to altered arterial wall structure, aortic aneurysms, cardiovascular dysfunction, diaphragmatic hernia, and perinatal death. Abnormal development of the respiratory system, and elastic and collagen fiber abnormalities in the lung and skin are also observed. [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
