PAX9

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]

Full Name

Paired Box 9

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.

Biological Process

Anatomical structure developmentManual Assertion Based On ExperimentIBA:GO_Central
Cellular response to growth factor stimulusIEA:Ensembl
Endoderm developmentIEA:Ensembl
Face morphogenesisIEA:Ensembl
Negative regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIDA:UniProtKB
OdontogenesisIEA:Ensembl
Regulation of odontogenesisIEA:Ensembl
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Nucleus

Involvement in disease

Tooth agenesis, selective, 3 (STHAG3):
A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth).