TBX22

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene have been associated with the inherited X-linked disorder, Cleft palate with ankyloglossia, and it is believed to play a major role in human palatogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]

Full Name

T-box 22

Function

Probable transcriptional regulator involved in developmental processes. This is major determinant crucial to palatogenesis.

Biological Process

Biological Process cell fate specificationIBA:GO_Central1 Publication
Biological Process negative regulation of DNA-templated transcriptionIDA:BHF-UCL1 Publication
Biological Process negative regulation of transcription by RNA polymerase IIIDA:BHF-UCL1 Publication
Biological Process positive regulation of DNA-templated transcriptionIEA:InterPro
Biological Process regulation of transcription by RNA polymerase IIIBA:GO_Central1 Publication

Cellular Location

Nucleus

Involvement in disease

Cleft palate with or without ankyloglossia, X-linked (CPX):
A congenital mouth abnormality characterized by fissure of the soft and/or hard palate, due to faulty fusion. Some patients also manifest ankyloglossia, a condition in which movements of the tongue are restricted. Complete ankyloglossia is due to fusion between the tongue and the floor of the mouth. Partial ankyloglossia is due to a short lingual frenum or one which is attached too near the tip of the tongue.
Abruzzo-Erickson syndrome (ABERS):
A disease characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis.