PAX9
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.
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).
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Nucleus
Alternative names
Paired box protein Pax-9, PAX9