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FLASH GENE
Symbol MKKS contributors: mct/npt/shn - updated : 21-05-2015
HGNC name McKusick-Kaufman syndrome
HGNC id 7108
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
similarity with type 2 chaperonin
secondary structure alpha/beta
HOMOLOGY
Homologene
FAMILY
  • TCP-1 chaperonin family
    • CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text
  • basal bodies
  • majority of BBS6 resides within the pericentriolar material (PCM), a proteinaceous tube surrounding centrioles
  • shuttles between the centrosome and cytosol in living cells, the rapidly degraded mutants often fail to localize to the centrosome (Hirayama 2008)
    • basic FUNCTION
  • putatively involved in protein processing in limb, cardiac and reproductive system development
  • required for the localization of G protein-coupled receptors to primary cilia on central neurons
  • involved in planar cell polarity
  • involved playing a role in retrograde intracellular trafficking of membrane-bound vesicles and organelles
  • may play important roles in ciliated epithelial tissues, which is consistent with the probable functions of BBS proteins in basal bodies (modified centrioles) and cilia
  • mediate LEPR trafficking and impaired LEPR signaling underlies energy imbalance in the disease (Seo 2009)
  • play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RHOA levels
  • MKKS, BBS10, BBS12 play an important role in the initial steps of assembly of the BBSome, which is a multiprotein complex essential for mediating the ciliary trafficking activity
    • CELLULAR PROCESS protein, post translation, folding
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component part of a complex composed of three chaperonin-like BBS proteins (MKKS, BBS10, and BBS12), that are required for BBSome assembly (Seo 2010)
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CEP290 (
  • MACF1 also interacts with the ciliary proteins MKKS and TALPID3
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BBS6 , MKKS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurosensorialear 
    combinations of Cep290rd16 and Mkksko alleles in RD16 mice led to improved ciliogenesis and sensory functions
    ANIMAL & CELL MODELS
  • zebrafish embryos, combined subminimal knockdown of mkks and cep290 produced sensory defects in the eye and inner ear (