Aliases for PAX9 Gene
External Ids for PAX9 Gene
Previous GeneCards Identifiers for PAX9 Gene
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]
GeneCards Summary for PAX9 Gene
PAX9 (Paired Box 9) is a Protein Coding gene. Diseases associated with PAX9 include Tooth Agenesis, Selective, 3 and Tooth Agenesis. Among its related pathways are Mesodermal Commitment Pathway and Wnt / Hedgehog / Notch. GO annotations related to this gene include RNA polymerase II regulatory region sequence-specific DNA binding and transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding. An important paralog of this gene is PAX1.
UniProtKB/Swiss-Prot for PAX9 Gene
Transcription factor required for normal development of thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of skull and larynx as well as distal limbs.