Go Annotations as Summary Text (Tabular View) (GO Graph)

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Automated description from the Alliance of Genome Resources (Release 7.5.0)

Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; E-box binding activity; and protein dimerization activity. Involved in positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including osteoclast differentiation; regulation of DNA-templated transcription; and regulation of osteoclast differentiation. Located in nucleus. Is expressed in several structures, including alimentary system; central nervous system; integumental system; mesenchyme derived from neural crest; and sensory organ. Used to study Tietz syndrome; Waardenburg syndrome (multiple); ocular albinism with sensorineural deafness; osteosclerosis (multiple); and polycystic kidney disease. Human ortholog(s) of this gene implicated in Tietz syndrome; Tietze's syndrome; Waardenburg syndrome; Waardenburg syndrome type 2A; and familial melanoma. Orthologous to human MITF (melanocyte inducing transcription factor).

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Gene Ontology Evidence Code Abbreviations:

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