Bardet-Biedl syndrome 6 protein; McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin (MKKS, BBS6)
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Function
- probable molecular chaperone
- assists the folding of proteins upon ATP hydrolysis
- component of the BBS/CCT complex
- may play a role in the assembly of the BBsome complex
- component of the interacts with STUB1
Structure
- the substrate-binding apical domain region is sufficient for centrosomal association
- belongs to the TCP-1 chaperonin family
Compartment
- cytoplasm, cytoskeleton, centrosome
- majority of the protein resides within the pericentriolar material (PCM), a proteinaceous tube surrounding centrioles
- during interphase, the protein is confined to the lateral surfaces of the PCM but during mitosis, it relocalizes throughout the PCM & is found at the intercellular bridge
- the MKSS protein is highly mobile & rapidly shuttles between the cytosol & centrosome
Expression
- widely expressed in adult & fetal tissues
Pathology
- defects in MKKS are the cause of
More general terms
Additional terms
- Bardet-Biedl syndrome
- McKusick-Kaufman syndrome (hydrometrocolpos syndrome, hydrometrocolpos, postaxial polydactyly, & congenital heart malformation)
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q9NPJ1.html
- ↑ Mutations of the MKKS gene Retina International's scientific newsletter http://www.retina-international.org/files/sci-news/mkksmut.htm
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/MKKS
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=8195
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:8195
- OMIM: https://mirror.omim.org/entry/209900
- OMIM: https://mirror.omim.org/entry/236700
- OMIM: https://mirror.omim.org/entry/604896
- UniProt: http://www.uniprot.org/uniprot/Q9NPJ1.html