CIR1
Description
The CIR1 (corepressor interacting with RBPJ, CIR1) is a protein-coding gene located on chromosome 2.
CIR1 plays a crucial role in regulating gene expression by acting as a corepressor for the transcription factor RBPJ. It modulates alternative splicing of pre-mRNAs and recruits RBPJ to the Sin3-histone deacetylase complex (HDAC), leading to the repression of gene transcription.
CIR1 is also known as CIR.
Associated Diseases
- autosomal recessive spondylocostal dysostosis
- pancreatic hypoplasia-diabetes-congenital heart disease syndrome
- prune belly syndrome
- heart defects-limb shortening syndrome
