MCIDAS gene

multiciliate differentiation and DNA synthesis associated cell cycle protein

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the geminin family of proteins. The encoded nuclear protein is required for the generation of multiciliated cells in respiratory epithelium. Mutations in this gene cause a rare mucociliary clearance disorder associated with recurring respiratory infections in human patients, known as reduced generation of multiple motile cilia (RGMC). [provided by RefSeq, Sep 2016]

From UniProt:

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).

From NCBI Gene:

  • CILIARY DYSKINESIA, PRIMARY, 42

From UniProt:

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. [MIM:618695]

Cytogenetic Location: 5q11.2, which is the long (q) arm of chromosome 5 at position 11.2

Molecular Location: base pairs 55,218,791 to 55,227,315 on chromosome 5 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 5q11.2, which is the long (q) arm of chromosome 5 at position 11.2
  • CILD42
  • IDAS
  • MCI
  • MCIN