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paired box protein PAX9 (PAX9)
Function:
- transcription factor required for normal development of thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of skull & larynx as well as distal limbs
- interacts with JARID1B
Structure: contains 1 paired domain
Compartment: nucleus
Pathology:
- defects in PAX9 are a cause of oligodontia
General
paired box protein (PAX)
Properties
SIZE: entity length = 341 aa
MW = 36 kD
COMPARTMENT: cell nucleus
MOTIF: paired box
SITE: 4-130
JARID1B interaction {168-189}
Database Correlations
OMIM 167416
MORBIDMAP 167416
UniProt P55771
Pfam PF00292
Entrez Gene 5083
Kegg hsa:5083
References
- UniProt :accession P55771
- Atlas of genetics & cytogenetics in oncology & haematology
http://atlasgeneticsoncology.org/genes/PAX9ID41644ch14q12.html