CIC
Function
Transcriptional repressor which plays a role in development of the central nervous system (CNS). In concert with ATXN1 and ATXN1L, involved in brain development.
Involvement in disease
Intellectual developmental disorder, autosomal dominant 45
MRD45
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD45 patients manifest developmental delay, variable intellectual disability, and behavioral disorders, including autistic features, attention deficit, and hyperactivity.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed in fetal brain.
Cellular localization
- Nucleus
Alternative names
KIAA0306, CIC, Protein capicua homolog