POU4F2

POU4F2 also known as POU domain, class 4, transcription factor 2 is a protein that in humans is encoded by the POU4F2 gene. It is a member of the POU-domain family of transcription factors, which play a key role in embryonic development and cell differentiation.

Function

POU4F2 is a transcription factor that binds to the octamer motif (5'-ATTTGCAT-3') and activates the promoters of the genes for small nuclear RNAs (snRNA) and of the genes associated with neuronal differentiation. It plays a crucial role in the development of the retina and optic nerve, and mutations in this gene have been associated with various diseases of the eye, including congenital stationary night blindness.

Structure

The POU4F2 protein is composed of 361 amino acids and has a molecular weight of approximately 40 kDa. It contains a POU-specific domain and a POU homeodomain, which are both necessary for DNA binding. The POU-specific domain is responsible for sequence-specific DNA binding, while the POU homeodomain is involved in protein-protein interactions.

Clinical significance

Mutations in the POU4F2 gene have been associated with various eye diseases, including glaucoma, retinitis pigmentosa, and congenital stationary night blindness. Studies have shown that POU4F2 is essential for the survival of retinal ganglion cells, and its loss can lead to optic nerve atrophy and vision loss.

Research

Research on POU4F2 is ongoing, with studies focusing on its role in eye development and disease, as well as its potential use in gene therapy for eye diseases.

File:POU4F2 protein structure.jpg

Structure of the POU4F2 protein.

See also

• POU domain
• Transcription factor
• Retina
• Optic nerve
• Congenital stationary night blindness

References

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