Automated description from the Alliance of Genome Resources (Release 7.1.0)
Enables several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; chromatin binding activity; and transcription coregulator binding activity. Acts upstream of or within several processes, including nervous system development; regulation of somitogenesis; and regulation of transcription by RNA polymerase II. Located in nucleus. Is expressed in several structures, including branchial arch; central nervous system; embryo mesenchyme; nose; and urinary system. Used to study Waardenburg syndrome; Waardenburg syndrome type 1; alveolar rhabdomyosarcoma; and neural tube defect. Human ortholog(s) of this gene implicated in Waardenburg syndrome; Waardenburg syndrome type 1; Waardenburg syndrome type 3; alveolar rhabdomyosarcoma; and craniofacial-deafness-hand syndrome. Orthologous to human PAX3 (paired box 3).