MKS1 MKS transition zone complex subunit 1
Gene ID: 54903, updated on 4-Jan-2025Gene type: protein coding
Also known as: MES; MKS; BBS13; POC12; JBTS28
- See all available tests in GTR for this gene
- Go to complete Gene record for MKS1
- Go to Variation Viewer for MKS1 variants
Summary
The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Associated conditions
Genomic context
- Location:
- 17q22
- Sequence:
- Chromosome: 17; NC_000017.11 (58205441..58219255, complement)
- Total number of exons:
- 19
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MKS1 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
- MKS1 @ LOVD
- 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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