POU3F1
Description
The POU3F1 (POU class 3 homeobox 1) is a protein-coding gene located on chromosome 1.
POU domain, class 3, transcription factor 1 (also known as Oct-6) is a protein that in humans is encoded by the POU3F1 gene. It is a transcription factor involved in the regulation of gene expression.
POU3F1 is a transcription factor that binds to the octamer motif (5'-ATTTGCAT-3'). It acts as a transcriptional activator when binding cooperatively with SOX4, SOX11, or SOX12 to gene promoters. It also acts as a transcriptional repressor of myelin-specific genes.
POU3F1 is also known as OCT6, OTF6, SCIP.
Associated Diseases
- Pelizeaus-Merzbacher spectrum disorder
- autosomal dominant slowed nerve conduction velocity
- adult-onset autosomal dominant demyelinating leukodystrophy
- autosomal recessive spastic paraplegia type 71
- tremor, hereditary essential, 6
- spinocerebellar ataxia type 20
- optic atrophy 2
