| Primary Identifier | MGI:108075 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 319757 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables several functions, including protein kinase A catalytic subunit binding activity; protein sequestering activity; and sterol binding activity. Involved in several processes, including regionalization; regulation of DNA-templated transcription; and regulation of animal organ morphogenesis. Acts upstream of or within several processes, including nervous system development; positive regulation of cell population proliferation; and regionalization. Located in several cellular components, including centriole; ciliary membrane; and endoplasmic reticulum-Golgi intermediate compartment. Is active in 9+0 non-motile cilium; Golgi apparatus; and non-motile cilium membrane. Is expressed in several structures, including 1st branchial arch; alimentary system; central nervous system; genitourinary system; and skeleton. Used to study medulloblastoma and pulmonary emphysema. Human ortholog(s) of this gene implicated in basal cell carcinoma; hepatocellular carcinoma; malignant pleural mesothelioma; pancreatic cancer; and pancreatic ductal carcinoma. Orthologous to human SMO (smoothened, frizzled class receptor). PHENOTYPE: Both an ENU-induced mutation and a null mutation are midgestation lethal. Observed defects include failure of neural tube closure and heart and gut defects. Conditional knockouts in chondrocytes and dental epithelium result in short long bones and dentalepithelium derivative defects, respectively. [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
