Family

McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin (IPR028790)

Short name: MKKS

Family relationships

Description

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].

GO terms

Biological Process

GO:0042384 cilium assembly
GO:0060271 cilium morphogenesis
GO:0006457 protein folding

Molecular Function

GO:0051082 unfolded protein binding

Cellular Component

No terms assigned in this category.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER