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BBS10 is a member of the Bardet-Biedl syndrome (BBS) gene family. Additionally we are shipping BBS10 Antibodies (49) and many more products for this protein.
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we report here, for the first time, in Indian population, a novel, different profile of mutations in BBS (show BBS2 Proteins) genes (BBS3, BBS9 (show BBS9 Proteins), BBS10 and BBS2 (show BBS2 Proteins)) compared to worldwide (BBS1 (show BBS1 Proteins) and 10) reports.
novel BBS10 mutations in Bardet-Biedl syndrome patients in Spain
Novel mutation (c.1181_1182insGCATTTATACC) in BBS10 (p.S396Lfs*6) found in Tunisian families with Bardet-Biedl syndrome.
We report two affected brothers from a consanguineous Pakistani Punjabi family, both the brothers were homozygous for c.1958_1967del, which is a novel deletion in BBS10 that is likely to be causing the Bardet-Biedl syndrome in this family.
Mutations identified in the present study extend the body of evidence implicating the genes ARL6 (show ARL4D Proteins) and BBS10 in causing Bardet-Biedl syndrome.
This study confirms the high frequency of BBS10 mutations, particularly of the p.Cys91LeufsX5 allele in Bardet-Biedl syndrome.
Mutation in BBS10 modulates Bardet-Biedl syndrome in a sibling.
Using sequence analysis, the role of BBS6 (show MKKS Proteins), 10 and 12 was assessed in a Bardet-Biedl syndrome patient population comprising 93 cases from 74 families.
the BBS10 and BBS12 (show BBS12 Proteins) proteins are located within the basal body of this primary cilium and inhibition of their expression impairs ciliogenesis, activates the GSK3 pathway, and induces PPAR (show PPARA Proteins) nuclear accumulation, hence favoring adipogenesis
report a major new BBS (show BBS2 Proteins) locus, BBS10, that encodes a previously unknown, rapidly evolving vertebrate-specific chaperonin (show HSPD1 Proteins)-like protein
These findings confirm that FLJ23560 (BBS10) mutations are a significant cause of BBS (show BBS2 Proteins).
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10.
Bardet-Biedl syndrome 10
, Chaperonin Containing TCP-1 family member (cct-1)-like
, Bardet-Biedl syndrome 10 protein
, Bardet-Biedl syndrome 10 protein homolog