Automated description from the Alliance of Genome Resources (Release 7.4.0)
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).
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