Search
T-box transcription factor TBX19; T-box protein 19; T-box factor, pituitary (TBX19, TPIT)
Function:
- transcriptional regulator involved in developmental processes
- can activate POMC gene expression & repress the alpha glycoprotein subunit & thyroid-stimulating hormone beta gene promoters
Structure:
- contains 1 T-box DNA-binding domain
Compartment: nucleus (putative)
Pathology:
- defects in TBX19 are a cause of isolated ACTH deficiency
General
T-box (TBX) protein
Properties
SIZE: entity length = 448 aa
MW = 48 kD
COMPARTMENT: cell nucleus
MOTIF: T-box domain
SITE: 45-218
Database Correlations
OMIM correlations
MORBIDMAP 604614
UniProt O60806
Pfam PF00907
Entrez Gene 9095
Kegg hsa:9095
References
- UniProt :accession O60806
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/TBX19