| Primary Identifier | MGI:107823 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 13038 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable several functions, including collagen binding activity; cysteine-type endopeptidase activator activity involved in apoptotic process; and fibronectin binding activity. Involved in proteolysis involved in protein catabolic process and thyroid hormone generation. Acts upstream of or within bone resorption; collagen catabolic process; and negative regulation of cartilage development. Located in external side of plasma membrane; extracellular space; and lysosome. Is expressed in several structures, including bone; central nervous system; connective tissue; gut; and sensory organ. Human ortholog(s) of this gene implicated in pycnodysostosis. Orthologous to human CTSK (cathepsin K). PHENOTYPE: Mice homozygous for disruptions in this gene survive well and are fertile. They have osteopetrosis, reduced levels of thyroxine and increased pulmonary fibrosis. [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
