MYT1L
Function
Transcription factor that plays a key role in neuronal differentiation by specifically repressing expression of non-neuronal genes during neuron differentiation. In contrast to other transcription repressors that inhibit specific lineages, mediates repression of multiple differentiation programs. Also represses expression of negative regulators of neurogenesis, such as members of the Notch signaling pathway, including HES1. The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro. Directly binds the 5'-AAGTT-3' core motif present on the promoter of target genes and represses transcription by recruiting a multiprotein complex containing SIN3B. The 5'-AAGTT-3' core motif is absent from the promoter of neural genes.
Involvement in disease
Intellectual developmental disorder, autosomal dominant 39
MRD39
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD39 patients show delayed psychomotor development and autistic features.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the MYT1 family.
Cellular localization
- Nucleus
- Chromosome
- Preferentially binds to DNA binding sites that are in an open chromatin configuration.
Alternative names
KIAA1106, MYT1L, Myelin transcription factor 1-like protein, MyT1-L, MyT1L