POU3F1

POU3F1 (also known as Oct-6 or Tst-1) is a protein that in humans is encoded by the POU3F1 gene. It is a member of the POU family of transcription factors, which play key roles in embryonic development and cell differentiation.

Function

POU3F1 is a transcription factor that binds to the octamer motif (5'-ATGCAAAT-3') and activates the promoters of the genes for small nuclear RNA and hemoglobin. It is involved in the regulation of neuronal differentiation and enhances the generation of oligodendrocytes.

Clinical significance

Mutations in the POU3F1 gene have been associated with certain neurological disorders. For example, a rare mutation in this gene has been linked to hypomyelinating leukodystrophy, a condition characterized by a lack of myelin in the nervous system.

Structure

The POU3F1 protein consists of a POU-specific domain and a POU homeodomain. The POU-specific domain is responsible for specific DNA binding, while the POU homeodomain is involved in protein-protein interactions.

Expression

POU3F1 is expressed in a variety of tissues, including the brain, spinal cord, and peripheral nervous system. Its expression is particularly high in Schwann cells, where it plays a crucial role in myelination.

See also

• POU domain
• Transcription factor
• Oligodendrocyte

References

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