This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. Mice lacking this gene exhibit impaired development of organs, musculature and the skeleton, including absent and abnormally developed teeth, and neonatal lethality. Mutations in the human gene are associated with selective tooth agenesis-3. [provided by RefSeq, Sep 2015],disease:Defects in PAX9 are a cause of oligodontia [MIM:604625]. It is a form of familial or selective tooth agenesis. Oligodontia is defined as the agenesis of 6 or more permanent teeth without associated systemic disorders. Agenesis of one or more teeth constitutes one of the most common developmental anomalies in man. Reported incidences vary from 1.6% to 9.6%, excluding third molar (Wisdom tooth) agenesis, which occurs in 20% of the population.,function:Transcription factor required for normal development of thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of skull and larynx as well as distal limbs.,similarity:Contains 1 paired domain.,subunit:Interacts with KDM5B.,
