TBX1

TBX1

Symbol	TBX1
HGNC ID	11640
Alternative symbols	–
Entrez Gene	6899
OMIM	602054
RefSeq	NM_080647
UniProt	Q9D1X6
Chromosome	22q11.21
Locus supplementary data	–

TBX1 is a gene that encodes a member of the T-box family of transcription factors. These transcription factors are involved in the regulation of developmental processes. The TBX1 gene is located on chromosome 22 and plays a crucial role in the development of the pharyngeal arches, which are structures in the embryo that give rise to various tissues in the head and neck.

Function

The TBX1 protein is a transcription factor that binds to specific DNA sequences, thereby regulating the expression of target genes. It is essential for the normal development of the cardiovascular system, craniofacial structures, and thymus. TBX1 is particularly important in the formation of the outflow tract of the heart and the development of the parathyroid glands.

Clinical significance

Mutations in the TBX1 gene are associated with 22q11.2 deletion syndrome, also known as DiGeorge syndrome. This syndrome is characterized by a range of developmental anomalies, including congenital heart defects, cleft palate, hypocalcemia, and immune deficiency. The deletion of the TBX1 gene is thought to contribute significantly to the phenotypic features of this syndrome.

Research

Studies on TBX1 have provided insights into the molecular mechanisms underlying 22q11.2 deletion syndrome. Research continues to explore the role of TBX1 in other developmental disorders and its potential involvement in congenital anomalies.

See also

• T-box family
• Transcription factor
• 22q11.2 deletion syndrome

External links

• TBX1 gene - NCBI
• TBX1 - Genetics Home Reference