McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin (IPR028790)
Short name: MKKS
Overlapping homologous superfamilies
- GroEL-like apical domain superfamily (IPR027409)
- Chaperonin Cpn60/TCP-1 family (IPR002423)
- McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin (IPR028790)
McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin (MKKS, also known as BBS6) is a chaperonin-like protein that is involved in folding newly synthesised polypeptides [PMID: 10802661]. As part of the BBS/CCT complex mediates BBSome assembly, which is involved in regulating ciliogenesis and transport of vesicles to the cilia [PMID: 20080638]. During mitosis, MKKS localises throughout the pericentriolar material (PCM) and the intercellular bridge. It is required for cytokinesis [PMID: 15731008].
Mutations in MKKS gene cause McKusick-Kaufman syndrome (MKKS), which is autosomal recessive developmental disorder [PMID: 10802661]. Mutations in MKKS gene also cause Bardet-Biedl syndrome 6 (BBS6), which is characterised by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation [PMID: 15731008].
- PTHR11353:SF77 (PTHR11353:SF77)