background:
Bardet-Biedl syndrome (BBS) is a pleiotropic genetic disorder characterized by obesity, photoreceptor degeneration, polydactyly, hypogenitalism, renal abnormalities, and developmental delay. Other associated clinical findings in BBS patients include diabetes, hypertension, and congenital heart defects. BBS genes map to multiple loci and encode fourteen proteins, BBS1-BBS14. Many BBS genes encode basal body or cilia proteins, suggesting that BBS is a ciliary dysfunction disorder. BBS10 (Bardet-Biedl syndrome 10), also known as chromosome 12 open reading fame 58, C12orf58 or FLJ23560, is a novel 723 amino acid protein belonging to the TCP-1 chaperonin family. BBS10 localizes to the basal body of primary cilium and assists in protein folding upon ATP hydrolysis. Inhibition of BBS10 has been found to impair ciliogenesis, activate the glycogen synthase kinase 3 pathway and cause peroxisome proliferator-activated receptor nuclear accumulation. The gene encoding BBS10 contains two exons and maps to human chromosome 12q21.2.
Function:
BBS10 belongs to the TCP-1 chaperonin family. It is a probable molecular chaperone; assist the folding of proteins upon ATP hydrolysis. Defects in BBS10 are the cause of Bardet-Biedl syndrome type 10 (BBS10) [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.
Subunit:
Component of the BBS/CCT complex composed at least of MKKS, BBS10, BBS12, TCP1, CCT2, CCT3, CCT4, CCT5 AND CCT8.
Subcellular Location:
Cell projection, cilium. Note=Located within the basal body of the primary cilium of differentiating preadipocytes.
DISEASE:
Defects in BBS10 are the cause of Bardet-Biedl syndrome type 10 (BBS10) [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.
Similarity:
Belongs to the TCP-1 chaperonin family.
Database links:
UniProtKB/Swiss-Prot: Q8TAM1.2
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
BBS蛋白是一类研究早期儿童肥胖综合症有关的其中一种。巴尔得-别德尔综合征（Bardet-Biedl syndrome，BBS）的特征为不同程度的肥胖、智力延迟、色素视网膜病变、多指和肾脏异常。
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