MKKS MKKS centrosomal shuttling protein
Gene ID: 8195, updated on 17-Jun-2024Gene type: protein coding
Also known as: KMS; MKS; BBS6; HMCS
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- Go to complete Gene record for MKKS
- Go to Variation Viewer for MKKS variants
Summary
This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2023]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Bardet-Biedl syndrome MedGen: C0752166GeneReviews: Bardet-Biedl Syndrome Overview | See labs |
| Bardet-Biedl syndrome 6 | See labs |
| McKusick-Kaufman syndrome | See labs |
Genomic context
- Location:
- 20p12.2
- Sequence:
- Chromosome: 20; NC_000020.11 (10401009..10434222, 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 MKKS 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
- MKKS database
- 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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