TFAP2B

TFAP2B is a gene that encodes a transcription factor protein in humans. This protein is part of the AP-2 family, which plays a critical role in development and differentiation of the neural crest. Mutations in this gene have been associated with Char syndrome, a rare autosomal dominant disorder characterized by patent ductus arteriosus, facial dysmorphism, and hand anomalies.

Structure

The TFAP2B gene is located on the short (p) arm of chromosome 6 at position 12. The gene spans approximately 20 kilobases and consists of 7 exons. The encoded protein contains 452 amino acids, including a basic helix-span-helix dimerization domain and a DNA-binding domain.

Function

The TFAP2B protein is a transcription factor that binds to a specific sequence in the promoters of target genes, regulating their expression. It is involved in the development of the neural crest and the differentiation of its derivatives, which include the craniofacial skeleton and peripheral nervous system.

Clinical Significance

Mutations in the TFAP2B gene are associated with Char syndrome, a rare genetic disorder. Symptoms of Char syndrome include patent ductus arteriosus, facial dysmorphism, and hand anomalies. The mutations often result in a change in the protein sequence, which can affect the protein's ability to bind DNA and regulate gene expression.

Research

Research on the TFAP2B gene and its associated protein continues to provide insights into the development of the neural crest and the pathogenesis of Char syndrome. Understanding the function of this gene may also have implications for other disorders involving neural crest derivatives, such as neuroblastoma and melanoma.