Transcription factor that acts synergistically with SOX11 and SOX4. Plays a role in neuronal development (PubMed:31303265). Is implicated in an enhancer activity at the embryonic met-mesencephalic junction; the enhancer element contains the octamer motif (5'-ATTTGCAT-3') (By similarity).
Snijders Blok-Fisher syndrome
SNIBFIS
An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, hypotonia, intellectual disability, autistic features, impairments in speech and language skills, and dysmorphic features including abnormal, cupped, or prominent ears and ocular anomalies.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the POU transcription factor family. Class-3 subfamily.
Brain.
BRN1, OTF8, POU3F3, Brain-specific homeobox/POU domain protein 1, Octamer-binding protein 8, Octamer-binding transcription factor 8, Brain-1, Brn-1, Oct-8, OTF-8
Proteins
Immunology & Infectious Disease
50327Da
We found 2 products in 1 category
ab106764
ab247159