| Primary Identifier | IPR028790 | Type | Family |
| Short Name | MKKS |
| description | Molecular chaperone MKKS (also known as BBS6) is a chaperonin-like protein that is involved in folding newly synthesised polypeptides []. As part of the BBS/CCT complex mediates BBSome assembly, which is involved in regulating ciliogenesis and transport of vesicles to the cilia []. During mitosis, MKKS localises throughout the pericentriolar material (PCM) and the intercellular bridge. It is required for cytokinesis []. It may play a role in protein processing in limb, cardiac and reproductive system development [].Mutations in MKKS gene cause McKusick-Kaufman syndrome (MKKS), which is autosomal recessive developmental disorder []. 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 []. |
