MCIDAS
Developmental stage
Probable target of the anaphase promoting complex/cyclosome (APC/C) which regulates its level in the cell during the mitotic cell cycle. Highly expressed during interphase and early mitosis. Expression decreases during anaphase to become undetectable during telophase and cytokinesis. Expressed in cells destined for multiciliated cell differentiation, its expression is very weak in fully differentiated ciliated respiratory cells (PubMed:25048963).
Function
Transcription regulator specifically required for multiciliate cell differentiation (PubMed:25048963). Acts in a multiprotein complex containing E2F4 and E2F5 that binds and activates genes required for centriole biogenesis. Required for the deuterosome-mediated acentriolar pathway (PubMed:25048963). Plays a role in mitotic cell cycle progression by promoting cell cycle exit. Modulates GMNN activity by reducing its affinity for CDT1 (PubMed:21543332, PubMed:24064211).
Involvement in disease
Ciliary dyskinesia, primary, 42
CILD42
A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Other more variable features may include infertility and mild hydrocephalus. Patients with this form of the disorder do not have situs abnormalities. CILD42 inheritance is autosomal recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the geminin family.
Cellular localization
- Nucleus
- Excluded from the nucleolus.
Alternative names
IDAS, MCI, MCIN, MCIDAS, Multicilin, Multiciliate differentiation and DNA synthesis-associated cell cycle protein, Protein Idas, McIdas protein