disease:Defects in MKKS are the cause of Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect.,disease:Defects in MKKS are the cause of McKusick-Kaufman syndrome (MKKS) [MIM:236700]. MKKS is an autosomal recessive developmental disorder. It is characterized by hydrometrocolpos, postaxial polydactyly and congenital heart defects.,function:May play a role in protein processing in limb, cardiac and reproductive system development.,online information:Retina International's Scientific Newsletter,similarity:Belongs to the TCP-1 chaperonin family.,tissue specificity:Widely expressed in adult and fetal tissues.,
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytosol . Nucleus . The majority of the protein resides within the pericentriolar material (PCM), a proteinaceous tube surrounding centrioles. During interphase, the protein is confined to the lateral surfaces of the PCM but during mitosis it relocalizes throughout the PCM and is found at the intercellular bridge. The MKSS protein is highly mobile and rapidly shuttles between the cytosol and centrosome.
Widely expressed in adult and fetal tissues.
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