Rabbit anti-Human, Mouse BBS2 Polyclonal Antibody | anti-BBS2 antibody

BBS2 Antibody

Cat. Num. AAA7046149

• Gene Names: BBS2; BBS; RP74
• Reactivity: Human, Mouse
• Applications: ELISA, Western Blot, Immunohistochemistry
• Purity: Antigen Affinity Purified
• Synonyms: BBS2; Polyclonal Antibody; BBS2 Antibody; Bardet-Biedl syndrome 2 protein; anti-BBS2 antibody

• Host: Rabbit
• Reactivity: Human, Mouse
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Antigen Affinity Purified
• Form/Format: Liquid
• Sequence Length: 721

• Applicable Applications for anti-BBS2 antibody: ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC)
• Species: Human
• Immunogen: Recombinant human Bardet-Biedl syndrome 2 protein (N-96AA)
• Conjugate: Non-conjugated
• Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
• Santa Cruz Alternative: Potential replacement for Santa Cruz Biotechnology antibody catalog# sc-49381 / sc-49384 / sc-99057
• Preparation and Storage: Shipped at 4 degree C. Upon delivery aliquot and store at -20 degree C or -80 degree C. Avoid repeated freeze.

Western Blot (WB)

(Western blotAll lanes: BBS2 antibody at 5.01ug/mlLane 1: Mouse liver tissueLane 2: Mouse brain tissueLane 3: Mouse gonadal tissueGoat polyclonal to Rabbit IgG at 1/10000 dilutionPredicted band size: 80 kDaObserved band size: 80 kDa)

Immunohistochemistry (IHC)

(Immunohistochemistry of paraffin-embedded human testis tissue using MBS7046149 at dilution 1:100)

Immunohistochemistry (IHC)

(Immunohistochemistry of paraffin-embedded human endometrial cancer using MBS7046149 at dilution 1:100)

Related Product Information for anti-BBS2 antibody

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.

NCBI and Uniprot Product Information

• NCBI GI #: 219842319
• NCBI GeneID: 583
• NCBI Accession #: NP_114091.3
• NCBI GenBank Nucleotide #: NM_031885.3
• UniProt Accession #: Q9BXC9; Q96CM0; Q96SN9
• Molecular Weight: 79,871 Da
• NCBI Official Full Name: Bardet-Biedl syndrome 2 protein
• NCBI Official Synonym Full Names: Bardet-Biedl syndrome 2
• NCBI Official Symbol: BBS2
• NCBI Official Synonym Symbols: BBS; RP74
• NCBI Protein Information: Bardet-Biedl syndrome 2 protein
• UniProt Protein Name: Bardet-Biedl syndrome 2 protein
• Protein Family: Bardet-Biedl syndrome 2 protein
• UniProt Gene Name: BBS2
• UniProt Entry Name: BBS2_HUMAN

NCBI Description

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]

Uniprot Description

BBS2: 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. Defects in BBS2 are the cause of Bardet-Biedl syndrome type 2 (BBS2). 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.

Protein type: Cell development/differentiation

Chromosomal Location of Human Ortholog: 16q21

Cellular Component: cytosol; membrane

Molecular Function: protein binding

Biological Process: adult behavior; brain morphogenesis; cerebral cortex development; cilium biogenesis; fat cell differentiation; Golgi to plasma membrane protein transport; hippocampus development; melanosome transport; negative regulation of multicellular organism growth; photoreceptor cell maintenance; protein localization; protein localization in organelle; sperm axoneme assembly; striatum development; visual perception

Disease: Bardet-biedl Syndrome 2; Retinitis Pigmentosa 74