title: PAX genes.
abstract: PAX genes are developmental control genes that encode transcription factors containing a DNA-binding paired domain. Mutations in three of the nine mouse genes (Pax1, Pax3 and Pax6) and two of the nine human genes (PAX3 and PAX6) are known to cause developmental defects. These defects are caused by loss-of-function alleles; pathogenesis occurs as a result of a half dosage of the PAX gene product in particular cells. Gain-of-function mutations have been implicated in cancer.
authors.affiliation: Department of Human Genetics, University of Newcastle upon Tyne, UK.
authors.forename: T
authors.initials: T
authors.lastname: Strachan
authors.forename: A P
authors.initials: AP
authors.lastname: Read
mesh_terms: D000818:Animals; D001483:Base Sequence; D005075:Biological Evolution; D016384:Consensus Sequence; D004247:DNA / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D018507:Gene Expression Regulation, Developmental; D005796:Genes; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D014157:Transcription Factors / Q000235:genetics*; D014849:Waardenburg Syndrome / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D014157:Transcription Factors; D004247:DNA