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Immunogen sequence: LEAYFCGRVG RNNHKFISQL MCDYFFKCMT CKSGIGVFEL VDDHFVELNV GVTGLPVSDS RIIAGLVLQK DFSVYRPADG DMRMVIVTET IQP
Highest antigen sequence identity to the following orthologs: Mouse - 81%, Rat - 78%.
BBS10 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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Bardet-Biedl syndrome 10 protein; BBSome complex assembly protein BBS10
Gene Aliases: BBS10; C12orf58
UniProt ID: (Human) Q8TAM1
Entrez Gene ID: (Human) 79738
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