产品名称
BBS2 Rabbit Polyclonal Antibody
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/583
Human Swissprot No.
Q9BXC9
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q9BXC9/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/67378
Mouse Swissprot No.
Q9CWF6
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q9CWF6
Rat Gene Link
https://www.uniprot.org/uniprot/113948
Rat Swissprot Link
https://www.uniprot.org/uniprotkb/Q99MH9
免疫原
Synthesized peptide derived from human BBS2 AA range: 149-199
特异性
This antibody detects endogenous levels of BBS2 at Human/Mouse/Rat
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
细胞定位
Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.
功能
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(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to 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.,online information:Retina International's Scientific Newsletter,subcellular location:Localizes to nonmembranous centriolar satellites in the cytoplasm.,subunit:Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex binds to PCM1 and tubulin.,tissue specificity:Widely expressed.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
