Product Description

BBS2 Rabbit Polyclonal Antibody

Sizes: 50μL, 100μL

Catalogue Numbers: ES18093-50, ES18093-100

Lead times: 1-2 weeks, if manufacturer has product in stock

Manufacturer/Ship Location: China

Background: 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 seven other BBS proteins.[provided by RefSeq, Oct 2014],

Reactivity: Human, Mouse, Rat

Host: Rabbit

Applications: WB

Clonality: Polyclonal

Immunogen: Synthesized peptide derived from human BBS2 AA range: 149-199

Isotype: IgG

Target: BBS2

Specificity: This antibody detects endogenous levels of BBS2 at Human/Mouse/Rat

Dilution: WB 1：500-2000

Purification: The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.

Concentration: 1 mg/ml,

Formlation: Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

Expression: Widely expressed,

Molecular Weight (Da): 79kD

Function: Disease: Defects in BBS2 are the cause of Bardet-Biedl syndrome type 2 (BBS2) [MIM: 209900]. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect
Function: The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8

Subcellular Location: Cell projection, cilium membrane Cytoplasm Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite

Storage and Stability: -20°C/1 year

Gene Name: BBS2

Protein Name: BBS2

Mouse Gene ID: 67378

Mouse SwissProt Number: Q9CWF6

Rat Gene ID: 113948

Rat SwissProt Number: Q99MH9

Research Use Only