Anti-BBS2 antibody (AA39774)

$187.00


Alternative names Bardet-Biedl syndrome 2 protein, BBS2, BBS2_HUMAN, Q9BXC9, 583
Source 721
Species Reactivity Human
Applications IHC, WB
Host Rabbit
Class Polyclonal
Conjugated Unconjugated


Description

Product name Anti-BBS2 antibody (AA39774)
Catalog number AA39774
Brand family Ango
Product type Primary Antibody
Antibody Alternative Names Bardet-Biedl syndrome 2 protein antibody, BBS2 antibody, BBS2_HUMAN antibody


Biological Information

Concentration 1 mg/ml
Isotype IgG
Purification method Purified by affinity chromatography


Target

Target Name BBS2
SwissProt ID Link Q9BXC9
Function The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. 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(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization.
Subcellular Location Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.
Involvement in Disease Bardet-Biedl syndrome 2: A syndrome 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. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles may be required for clinical manifestation of some forms of the disease. The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely expressed.
Subunit Structure Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts (via C-terminus) with BBS7. Interacts (via coiled coil domain) with MKKS. Interacts with CCDC28B and ALDOB.


Poduct Presentation

Form Liquid
Preservative 0.02% (w/v) sodium azide
Storage buffer PBS with 50% glycerol, pH 7.3


Storage and Shipping Information

Storage Store at -20 C. Avoid multiple freeze/thaw cycles.