BBS10
Bardet-Biedl syndrome 10
Synonyms:
C12orf58
Species:
Human BBS10 (79738), Mouse Bbs10 (71769), Rat Bbs10 (500832), cow BBS10 (538638), sheep BBS10 (101122679), Zebrafish bbs10 (100034535), chicken BBS10 (417865), dog BBS10 (100688777), domestic guinea pig Bbs10 (100714699), naked mole-rat Bbs10 (101708171)
UniProtKB ID:
Gene ID:
- Human(79738) Summary: 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. [provided by RefSeq, Jan 2010]
- Mouse(71769) Bardet-Biedl syndrome 10 (human)
- Rat(500832) Bardet-Biedl syndrome 10
- cow(538638) Bardet-Biedl syndrome 10
- sheep(101122679) Bardet-Biedl syndrome 10
- Zebrafish(100034535) Bardet-Biedl syndrome 10
- chicken(417865) Bardet-Biedl syndrome 10
- dog(100688777) Bardet-Biedl syndrome 10
- domestic guinea pig(100714699) Bardet-Biedl syndrome 10
- naked mole-rat(101708171) Bardet-Biedl syndrome 10
- domestic cat(101083862) Bardet-Biedl syndrome 10
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Antibodies
Product Number
Description
Species Reactivity
Application
Anti-BBS10 antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution,
Species Reactivity
human
Application
immunohistochemistry