MKKS

Cilia effects upon perturbation of MKKS

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-7.78) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-2.79) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:

Bardet-Biedl syndrome; Bardet-Biedl syndrome 1

Ciliopathy associations

• Bardet-Biedl Syndrome
• McKusick-Kaufman Syndrome

References: PMID:10802661, PMID:10973238, PMID:12837689

Subcellular localization

basal body, centrosome, cytosol, transition zone

References: PMID:41005307, PMID:20080638, PMID:22446187

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• Reproduction & sperm
• Protein processing & maturation
• Cell migration & adhesion
• Signaling (Hedgehog, GPCRs, ion channels)
• Ciliary membrane
• Cardiac & muscle development
• Muscle contraction & physiology
• Transition zone
• ECM & connective tissue
• Transcription regulation

Function

Also known as BBS6. Associated with Bardet-Biedl and McKusick-Kaufman syndromes. Chaperonin-like BBS protein necessary for BBSome assembly in associationg with BBS10 and BBS12, and required for the stability of BBS2 and BBS7 (20080638). Interacts with CEP290 in the ciliary transition zone to mediate ciliogenesis, maintenance of cilia integrity and function (22446187).