Ген TBX1 и его роль в развитии 22q11.2 делеционного синдрома.

Protein coding gene in the species Homo sapiens

T box transcription factor TBX1 also known as T box protein 1 and testis specific T box protein is a protein that in humans is encoded by the TBX1 gene. Genes in the T box family are transcription factors that play important roles in the formation of tissues and organs during embryonic development. To carry out these roles, proteins made by this gene family bind to specific areas of DNA called T box binding element (TBE) Although the T box 1 protein acts as a transcription factor, it is not yet known which genes are regulated by the protein. TBX1 is thought to operate on the same developmental pathway as CHD7 which can be mutated in CHARGE syndrome.

Most cases of 22q11.2 deletion syndrome are caused by the deletion of a small piece of chromosome 22. This region of the chromosome contains about 30 genes, including the TBX1 gene. In a small number of affected individuals without a chromosome 22 deletion, mutations in the TBX1 gene are thought to be responsible for the characteristic signs and symptoms of the syndrome. Of the three known mutations, two mutations change one amino acid (a building block of proteins) in the T box 1 protein. The third mutation deletes a single amino acid from the protein. These mutations likely disrupt the ability of the T box 1 protein to bind to DNA and regulate the activity of other genes. Loss of the TBX1 gene, due to either a mutation in the gene or a deletion of part of chromosome 22, is responsible for many of the features of 22q11.2 deletion syndrome. Specifically, a loss of the TBX1 gene is associated with heart defects, an opening in the roof of the mouth (a cleft palate), distinctive facial features, and low calcium levels, but does not appear to cause learning disabilities. Mutation in TBX1 causes predisposition to hernias.