| Primary Identifier | MGI:105373 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 19206 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables cyclin binding activity; heparin binding activity; and patched binding activity. Involved in several processes, including cellular response to cholesterol; chordate embryonic development; and regulation of DNA-templated transcription. Acts upstream of or within several processes, including chordate embryonic development; epithelial tube morphogenesis; and limb morphogenesis. Located in cilium; midbody; and plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; genitourinary system; and limb. Used to study basal cell carcinoma; medulloblastoma; and nevoid basal cell carcinoma syndrome. Human ortholog(s) of this gene implicated in carcinoma (multiple); holoprosencephaly (multiple); nevoid basal cell carcinoma syndrome (multiple); and stomach cancer. Orthologous to human PTCH1 (patched 1). PHENOTYPE: Homozygous null embryos die by day 10 with neural tube defects. Heterozygotes are large with excess cerebellar granule cell proliferation and sometimes, hindlimb defects and medulloblastomas. Hypomorphic and spontaneous mutants have reproductive defects. [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
