PHF6

PHF6 is a gene that encodes the protein PHD finger protein 6 in humans. This protein is a nuclear protein that has a PHD finger, a motif known for its involvement in chromatin-mediated transcriptional regulation. Mutations in this gene have been associated with the Börjeson-Forssman-Lehmann syndrome, a X-linked mental retardation syndrome.

Function

The PHF6 protein is a nuclear protein that is expressed in a variety of tissues, including the brain, heart, and skeletal muscle. It is believed to play a role in the regulation of cell cycle and cell proliferation. The exact function of this protein is still under investigation.

Clinical significance

Mutations in the PHF6 gene have been associated with Börjeson-Forssman-Lehmann syndrome, a rare X-linked mental retardation syndrome characterized by intellectual disability, obesity, seizures, and hypogonadism. In addition, mutations in this gene have also been found in patients with T-cell acute lymphoblastic leukemia, suggesting a potential role in leukemogenesis.

Research

Research into the PHF6 gene and its associated protein is ongoing, with a focus on understanding its role in cell cycle regulation and its potential involvement in cancer development. Further research is needed to fully understand the function of this gene and its protein product.

See also

• Börjeson-Forssman-Lehmann syndrome
• T-cell acute lymphoblastic leukemia
• PHD finger

References

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