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BBS10 is a member of the Bardet-Biedl syndrome (BBS) gene family. Additionally we are shipping BBS10 Proteins (3) and many more products for this protein.
Showing 10 out of 51 products:
we report here, for the first time, in Indian population, a novel, different profile of mutations in BBS (show BBS2 Antibodies) genes (BBS3, BBS9 (show BBS9 Antibodies), BBS10 and BBS2 (show BBS2 Antibodies)) compared to worldwide (BBS1 (show BBS1 Antibodies) 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 Antibodies) 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 Antibodies), 10 and 12 was assessed in a Bardet-Biedl syndrome patient population comprising 93 cases from 74 families.
the BBS10 and BBS12 (show BBS12 Antibodies) proteins are located within the basal body of this primary cilium and inhibition of their expression impairs ciliogenesis, activates the GSK3 (show GSK3b Antibodies) pathway, and induces PPAR (show PPARA Antibodies) nuclear accumulation, hence favoring adipogenesis
report a major new BBS (show BBS2 Antibodies) locus, BBS10, that encodes a previously unknown, rapidly evolving vertebrate-specific chaperonin (show HSPD1 Antibodies)-like protein
These findings confirm that FLJ23560 (BBS10) mutations are a significant cause of BBS (show BBS2 Antibodies).
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