ZNF711
Function
Transcription regulator required for brain development (PubMed:20346720). Probably acts as a transcription factor that binds to the promoter of target genes and recruits PHF8 histone demethylase, leading to activated expression of genes involved in neuron development, such as KDM5C (PubMed:20346720, PubMed:31691806). May compete with transcription factor ARX for activation of expression of KDM5C (PubMed:31691806).
Involvement in disease
Intellectual developmental disorder, X-linked 97
XLID97
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the krueppel C2H2-type zinc-finger protein family.
Tissue Specificity
Expressed in neural tissues.
Cellular localization
- Nucleus
Alternative names
CMPX1, ZNF6, ZNF711, Zinc finger protein 711, Zinc finger protein 6