PHF20

PHF20 is a protein that in humans is encoded by the PHF20 gene. The PHF20 protein is a component of the Tudor domain 'reading' module that recognizes and interprets the histone methylation 'writing' module. It plays a crucial role in maintaining the epigenetic state of cells, thus regulating the pattern of gene expression.

Function

The PHF20 protein is a component of the MOF complex, a multiprotein complex that plays a critical role in transcription activation by acetylating lysine 16 of histone H4 (H4K16ac). The MOF complex is also involved in DNA repair and maintenance of stem cell state.

Clinical significance

Mutations in the PHF20 gene have been associated with neurodevelopmental disorders, including intellectual disability and autism spectrum disorder. Further research is needed to fully understand the role of PHF20 in these conditions.

Structure

The PHF20 protein contains a Tudor domain, which is a protein domain that recognizes and binds to methylated lysines on histone proteins. This allows PHF20 to 'read' the methylation 'writing' on the histones and interpret it to regulate gene expression.

See also

• Tudor domain
• Histone
• Epigenetics
• MOF complex
• Neurodevelopmental disorder

References

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