MKKS (基因名), McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin (蛋白名), MKKS_HUMAN.
Human MKKS/ McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin Recombinant Protein
Bardet-Biedl syndrome 6 protein, BBS6
>90% by SDS-PAGE
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50mM NaH2PO4, 500mM NaCl Buffer with 500mM Imidazole, 10%glycerol(PH8.0)
Store at -20°C. (Avoid repeated freezing and thawing.)
Component of the BBS/CCT complex composed at least of MKKS, BBS10, BBS12, TCP1, CCT2, CCT3, CCT4, CCT5 AND CCT8. Interacts with STUB1. Interacts with BBS2 (via coiled coil domain). Interacts with CCDC28B. Interacts with BBS12 (PubMed:26900326).
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.
Cytoplasm Cytoskeleton Microtubule organizing center Centrosome Cytoplasm Cytosol 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.
MSRLEAKKPS | LCKSEPLTTE | RVRTTLSVLK | RIVTSCYGPS | GRLKQLHNGF |
GGYVCTTSQS | SALLSHLLVT | HPILKILTAS | IQNHVSSFSD | CGLFTAILCC |
NLIENVQRLG | LTPTTVIRLN | KHLLSLCISY | LKSETCGCRI | PVDFSSTQIL |
LCLVRSILTS | KPACMLTRKE | TEHVSALILR | AFLLTIPENA | EGHIILGKSL |
IVPLKGQRVI | DSTVLPGILI | EMSEVQLMRL | LPIKKSTALK | VALFCTTLSG |
DTSDTGEGTV | VVSYGVSLEN | AVLDQLLNLG | RQLISDHVDL | VLCQKVIHPS |
LKQFLNMHRI | IAIDRIGVTL | MEPLTKMTGT | QPIGSLGSIC | PNSYGSVKDV |
CTAKFGSKHF | FHLIPNEATI | CSLLLCNRND | TAWDELKLTC | QTALHVLQLT |
LKEPWALLGG | GCTETHLAAY | IRHKTHNDPE | SILKDDECTQ | TELQLIAEAF |
CSALESVVGS | LEHDGGEILT | DMKYGHLWSV | QADSPCVANW | PDLLSQCGCG |
LYNSQEELNW | SFLRSTRRPF | VPQSCLPHEA | VGSASNLTLD | CLTAKLSGLQ |
VAVETANLIL | DLSYVIEDKN |
"BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly."
"Association between BBS6/MKKS gene polymorphisms, obesity and metabolic syndrome in the Greek population."
"Variation of the McKusick-Kaufman gene and studies of relationships with common forms of obesity."
"MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis."
"Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci."
"Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder."
"Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein."
"Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families."
"A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome."
"Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip."
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