DRC1 dynein regulatory complex subunit 1
Gene ID: 92749, updated on 18-Sep-2024Gene type: protein coding
Also known as: CILD21; SPGF80; C2orf39; CCDC164
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- Go to complete Gene record for DRC1
- Go to Variation Viewer for DRC1 variants
Summary
This gene encodes a central component of the nexin-dynein complex (N-DRC), which regulates the assembly of ciliary dynein. Mutations in this gene can cause ciliary dyskinesia. [provided by RefSeq, Aug 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. GeneReviews: Not available | |
| Primary ciliary dyskinesia 21 | See labs |
| Spermatogenic failure 80 | not available |
Genomic context
- Location:
- 2p23.3
- Sequence:
- Chromosome: 2; NC_000002.12 (26401920..26456711)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DRC1 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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