TFAP2A

TFAP2A 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 cell. Mutations in this gene have been associated with various medical conditions, including Branchiooculofacial syndrome and Char syndrome.

Structure

The TFAP2A gene is located on the long (q) arm of chromosome 6 at position 24.3. The gene spans about 20 kilobases and consists of 7 exons. The encoded protein, AP-2 alpha, contains 437 amino acids and has a molecular weight of approximately 48 kDa.

Function

AP-2 alpha, the protein encoded by the TFAP2A gene, is a transcription factor that binds to a specific sequence in DNA, known as the GC-rich consensus sequence. This protein plays a crucial role in cell growth, differentiation, and apoptosis. It is also involved in the development of the face, limbs, and neural crest-derived tissues.

Clinical significance

Mutations in the TFAP2A gene can lead to various medical conditions. For instance, a mutation in this gene is the cause of Branchiooculofacial syndrome, a rare genetic disorder characterized by distinctive facial features, skin abnormalities, and hearing loss. Similarly, Char syndrome, a condition that affects the heart, face, and fingers, is also associated with mutations in the TFAP2A gene.

Research

Research on the TFAP2A gene and its encoded protein is ongoing, with studies focusing on its role in development and disease. Understanding the function and regulation of this gene could lead to new treatments for the conditions associated with its mutation.

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References

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External links

• TFAP2A at NCBI
• TFAP2A at Genetics Home Reference
• TFAP2A at GeneCards

See also

• AP-2 family
• Transcription factor
• Branchiooculofacial syndrome
• Char syndrome