POU4F1

POU4F1 is a protein that in humans is encoded by the POU4F1 gene. This protein is a member of the POU-domain class of transcription factors, which are involved in the regulation of gene expression in both developmental and cellular processes.

Function

The POU4F1 protein is a transcription factor that plays a crucial role in the development of the nervous system. It is particularly important in the differentiation and survival of neurons in the retina. Mutations in the POU4F1 gene can lead to various neurological disorders.

Structure

The POU4F1 protein consists of a POU-specific domain and a POU-homeodomain. These domains are involved in the binding of the protein to specific DNA sequences, thereby regulating gene expression.

Clinical significance

Mutations in the POU4F1 gene have been associated with various neurological disorders, including optic nerve hypoplasia and septooptic dysplasia. These conditions can lead to vision loss and other neurological symptoms.

Research

Research on POU4F1 is ongoing, with studies focusing on its role in the development of the nervous system and its potential as a therapeutic target for neurological disorders.

See also

• POU domain
• Transcription factor
• Gene expression
• Neuron
• Retina
• Optic nerve hypoplasia
• Septooptic dysplasia

References

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