developmental stage:Expressed in early human development as well as in a limited number of adult tissues.,disease:May play a part in the etiology of the velocardiofacial/DiGeorge syndrome (VCFS/DGS), a developmental disorder characterized by structural and functional palate anomalies, conotruncal cardiac malformations, immunodeficiency, hypocalcemia, and typical facial anomalies. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR).,function:May have a role in development. May regulate its own transcription. May bind the bicoid consensus sequence TAATCC.,similarity:Belongs to the paired homeobox family. Bicoid subfamily.,similarity:Contains 1 homeobox DNA-binding domain.,tissue specificity:Detected in adult testis and pituitary, and in 9-10 week fetal tissue (thorax). Probably expressed in other tissues at low levels.,
show all
Function:
regulation of transcription, DNA-dependent, regulation of transcription from RNA polymerase II promoter, regulation of transcription, regulation of RNA metabolic process,
show all
Cellular Localization:
Nucleus .
show all
Tissue Expression:
Detected in adult testis and pituitary, and in 9-10 week fetal tissue (thorax). Probably expressed in other tissues at low levels.