MKKS

MKKS (BBS6) is a divergent member of the group II (type II) / TCP-1 (CCT/TRiC) chaperonin family. Rather than acting as a stable structural subunit of the mature BBSome, it functions as a chaperonin-like assembly factor: together with the related chaperonin-like proteins BBS10 and BBS12 and the CCT/TRiC chaperonin, it forms a "BBS-chaperonin complex" that stabilizes BBS7 and nucleates assembly of the BBSome core (BBS7-BBS2-BBS9), thereby promoting biogenesis of the BBSome that traffics membrane cargo to and within primary cilia. The protein localizes predominantly to the centrosome and pericentriolar material and to the ciliary basal body, shuttling rapidly between the cytosol and centrosome and also between the cytoplasm and nucleus. Beyond ciliary roles, MKKS interacts with the SWI/SNF chromatin-remodeling subunit SMARCC1 and can modulate its subcellular localization. Loss-of-function mutations cause McKusick-Kaufman syndrome (hydrometrocolpos, postaxial polydactyly, congenital heart defects) and Bardet-Biedl syndrome 6 (retinal degeneration, obesity, polydactyly, renal and genital anomalies, intellectual disability).

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

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• bbsome_trafficking via Bardet-Biedl syndrome, McKusick-Kaufman syndrome