Supplier:
Aviva Systems Biology IncorporatedBBS2 (Bardet-Biedl syndrome 2) Blocking Peptide (the N terminal of BBS2)(100ug)
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SPECIFICATIONS
Size
100ug
Reactivities
Hum
Format
Lyophilized powder
Presku
AAP59752
Target
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 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 forms a multiprotein BBSome complex with six other BBS proteins.
Weight
80kDa
Gene Id
583
Alternative Names
BBS; MGC20703
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