| Primary Identifier | MGI:1330810 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 22061 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables several functions, including DNA binding activity; DNA-binding transcription activator activity, RNA polymerase II-specific; and promoter-specific chromatin binding activity. Involved in several processes, including establishment of skin barrier; negative regulation of intracellular estrogen receptor signaling pathway; and regulation of epidermal cell division. Acts upstream of or within several processes, including embryonic morphogenesis; epithelial cell differentiation; and regulation of transcription by RNA polymerase II. Located in nucleus. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; sensory organ; and surface ectoderm. Used to study ankyloblepharon-ectodermal defects-cleft lip/palate syndrome; bladder exstrophy; ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3; and gastroesophageal reflux disease. Human ortholog(s) of this gene implicated in several diseases, including ADULT syndrome; EEC syndrome (multiple); ectodermal dysplasia (multiple); orofacial cleft 8; and split hand-foot malformation 4. Orthologous to human TP63 (tumor protein p63). PHENOTYPE: Homozygotes for null mutations lack hair follicles, teeth, eyelids, and all squamous epithelia and derivatives including mammary, lacrymal, salivary, and prostate glands. Mutants have craniofacial anomalies, missing or truncated limbs, and small genitalia, and they die perinatally. [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
