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Target intelligence / Profile preview
T-box transcription factor 1 (TBX1)
- Target
- TBX1
- Molecular classification
- Transcription factor, T-box gene family
01
Overview
T-box transcription factor 1 (TBX1) is a member of the T-box family of DNA-binding transcription factors characterized by the T-box domain, binding to sequence-specific T-box binding elements in DNA to regulate gene expression. TBX1 plays a critical role in the embryonic development of the heart, large arteries, craniofacial structures, glands of the neck, and thymus. Mutations or deletions in TBX1 cause multiple congenital conditions, notably 22q11.2 deletion syndrome, which is associated with cardiac and craniofacial defects, hypocalcemia, and immunodeficiency. TBX1 is not currently a direct therapeutic target, but its genetic status provides important biomarker information for syndromic developmental disorders[1][2][3].
- Other names
- T-box protein 1Testis-specific T-box proteinCATCH22CAFSCTHMDGCRDGSDORVTBX1CTGAVCFVCFSBrachyury
02
Mechanism of action
Not applicable (no drugs target this molecule directly)[1][2][3].
03
Biological functions
DNA bindingRegulation of gene expressionEmbryonic development of tissues and organsDevelopment of heart, arteries, face, neck, thymus, parathyroid glands
04
Disease associations
22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)Congenital heart defects (truncus arteriosus, aortic arch defects)Craniofacial and glandular abnormalitiesPredisposition to herniasHearing lossCleft palate
05
Safety considerations
Therapeutic modulation is not practiced; safety challenges relate to congenital mutations causing critical developmental defects
06
Biomarkers
Mutations or deletions of TBX1 are used in genetic diagnosis of 22q11.2 deletion syndrome and related phenotypes
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