background:
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.
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.
Subunit:
Component of the BBS/CCT complex composed at least of MKKS, BBS10, BBS12, TCP1, CCT2, CCT3, CCT4, CCT5 AND CCT8. Interacts with STUB1.
Subcellular Location:
Cytoplasm, cytoskeleton, 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 Specificity:
Widely expressed in adult and fetal tissues.
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.
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.
Similarity:
Belongs to the TCP-1 chaperonin family.
Database links:
UniProtKB/Swiss-Prot: Q9NPJ1.1
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
巴德-毕德氏综合征-BBS,为常染色体隐性遗传，有高度的多样性，主要为近亲通婚有关。临床床表現有明显的差异，甚至在同一家族內有智障、多指、肥胖、生育障碍及肾功能异常功能异常，其表现程度亦有不同。但家族中患病成員的视网膜萎缩型式是一致的。已知有五个致病基因与BBS 相关，包括在不同染色体上的基因不同，分为BBS1、BBS2、BBS4、MKKS（BBS6）、BBS7，另外有二个基因与BBS有连锁关系，为BBS3、BBS5，这些不同的亚型，也是导致不同病变表現型的原因。
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