Alt. symbols: VCF | CATCH22

Approved name: T-box transcription factor 1
Alt. names: velocardiofacial syndrome, T-box 1

Location: 22q11.21: 19756703 - 19783593 (+)
Gene type: protein_coding, 8 transcripts.

Scores: LoFtool: | pLI: 0.98339679 | LOEUF: 0.427

HGNC: 11592

NCBI: 6899, RefSeq: NG_009229.1

Ensembl: ENSG00000184058.16

LRG_226 | Status: public

OMIM: 602054

Expression | ProteinAtlas

The TBX1 gene encodes the protein T-box 1. Genes in the T-box family play important roles in the formation of tissues and organs during embryonic development. T-box proteins are transcription factors, and thus to carry out their function, they bind to specific areas of DNA to help control the activity of those target genes. The T-box 1 protein appears to be necessary for the normal development of muscles and bones of the face and neck, large arteries that carry blood out of the heart, structures in the ear, and glands such as the thymus and parathyroid. Although the T-box 1 protein acts as a transcription factor, it is not clear yet which genes are regulated by this protein.

Monoallelic mutations in this gene have been reported to cause several autosomal dominant and overlapping conditions known as Conotruncal anomaly face syndrome [MIM:217095], Velocardiofacial syndrome [MIM:192430], DiGeorge syndrome [MIM:188400], and Tetralogy of Fallot [MIM:187500]. The phenotypic features observed in these syndromes resemble those seen in 22q11.2 deletion syndrome. Loss or reduction in the amount of functional T-box 1 are associated with heart defects, cleft palate, (opening in the roof of the mouth), distinctive facial features, hearing loss, and low calcium levels. Some studies suggest that a loss of the TBX1 gene may also be associated with behavioral problems in affected individuals. [Load More]