MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein
Gene ID: 345643, updated on 2-Nov-2024Gene type: protein coding
Also known as: MCI; IDAS; MCIN; CILD42
- See all available tests in GTR for this gene
- Go to complete Gene record for MCIDAS
- Go to Variation Viewer for MCIDAS variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Ciliary dyskinesia, primary, 42 | See labs |
Genomic context
- Location:
- 5q11.2
- Sequence:
- Chromosome: 5; NC_000005.10 (55219564..55227315, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MCIDAS variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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