Protein Domain : IPR028790

Type:  Family Name:  McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
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 []. 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 []. 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 []. Short Name:  MKKS
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0 Child Features

0 Contains

1 Cross References

Identifier
PTHR11353:SF12

0 Found In

4 GO Annotations

GO Term Gene Name
GO:0051082 IPR028790
GO:0006457 IPR028790
GO:0042384 IPR028790
GO:0060271 IPR028790

4 Ontology Annotations

GO Term Gene Name
GO:0051082 IPR028790
GO:0006457 IPR028790
GO:0042384 IPR028790
GO:0060271 IPR028790

1 Parent Features

DB identifier Type Name
IPR002423 Family Chaperonin Cpn60/TCP-1 family

0 Proteins

3 Publications

First Author Title Year Journal Volume Pages PubMed ID
            20080638
            10802661
            15731008