|Other Names||McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin, Bardet-Biedl syndrome 6 protein, MKKS, BBS6|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis.|
|Cellular Location||Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytosol. Note=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|
|Tissue Location||Widely expressed in adult and fetal tissues.|
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Provided below are standard protocols that you may find useful for product applications.
MKKS is a protein with sequence similarity tothe chaperonin family. The encoded protein may have a role inprotein processing in limb, cardiac and reproductive systemdevelopment. Mutations in this gene have been observed in patientswith Bardet-Biedl syndrome type 6 and McKusick-Kaufman syndrome.Two transcript variants encoding the same protein have beenidentified for this gene.
Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010)Billingsley, G., et al. J. Med. Genet. 47(7):453-463(2010)Corpeleijn, E., et al. Obesity (Silver Spring) 18(7):1369-1377(2010)Mukherjee, K., et al. BMC Evol. Biol. 10, 64 (2010) :Talmud, P.J., et al. Am. J. Hum. Genet. 85(5):628-642(2009)
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