PHF21A

PHF21A is a gene that encodes the PHD finger protein 21A in humans. This protein is a part of the PHD finger proteins family, which are known for their involvement in chromatin remodeling. PHF21A is also known as BHC80, a component of the BHC complex that plays a crucial role in neural development and neuronal differentiation.

Function

The PHF21A gene provides instructions for making a protein that is involved in the regulation of gene expression, the process by which information from a gene is used in the synthesis of a functional gene product. This protein is a part of a complex that modifies histones, the structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding or removing chemical groups to histones, this complex can control the activity of certain genes.

Clinical Significance

Mutations in the PHF21A gene have been associated with Potocki-Shaffer syndrome, a rare genetic disorder characterized by multiple exostoses, parietal foramina, intellectual disability, and craniofacial abnormalities. The PHF21A gene mutations that cause Potocki-Shaffer syndrome lead to the production of an abnormally short, nonfunctional version of the PHD finger protein 21A. This disrupts the normal regulation of gene expression, which likely contributes to the varied signs and symptoms of Potocki-Shaffer syndrome.

Research

Research is ongoing to understand the full spectrum of PHF21A gene functions and its role in human diseases. Studies have suggested that PHF21A may also be involved in the regulation of circadian rhythms, and its dysregulation may contribute to sleep disorders.

See Also

• PHD finger proteins
• Potocki-Shaffer syndrome
• Gene expression
• Histones
• DNA

References

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