BBS2 Rabbit polyclonal antibody

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£152.00

SKU:: A7425
Zusätzliche Namen:: BBS|BBS2|RP74
Anwendung:: ELISA, WB
Molekulargewicht:: 100kDa
Spezies-Reaktivität:: Human
Aufreinigung:: Affinity Purified
Lagerbedingungen:: -20[o]C Avoid freeze/thaw cycles.
Hersteller:: Abclonal
Host:: Rabbit
Reaktivitäten:: Mouse, Rat
Immunogen:: Recombinant protein (or fragment).This information is considered to be commercially sensitive.
Formulierung:: Unmodified
Sequenz:: MLLPVFTLKLRHKISPRMVAIGRYDGTHPCLAAATQTGKVFIHNPHTRNQHVSASRVFQSPLESDVSLLNINQAVSCLTAGVLNPELGYDALLVGT
Uniprot:: Q9BXC9
Synonyme:: Bardet-Biedl syndrome 2 protein;BBS;RP74
Weitere Details:: This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. 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 forms a multiprotein BBSome complex with seven other BBS proteins.