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

BBS2 (Bardet-Biedl Syndrome 2 Protein)

Cat. Num. AAA641790

• Gene Names: BBS2; BBS
• Reactivity: Human
• Applications: Western Blot
• Purity: Affinity Purified; Purified by Protein A affinity chromatography.
• Synonyms: BBS2; Polyclonal Antibody; BBS2 (Bardet-Biedl Syndrome 2 Protein); Anti -BBS2 (Bardet-Biedl Syndrome 2 Protein); anti-BBS2 antibody

• Host: Mouse
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Recognizes human BBS2.
• Purity/Purification: Affinity Purified; Purified by Protein A affinity chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2.
• Sequence: MLLPVFTLKLRHKISPRMVAIGRYDGTHPCLAAATQTGKVFIHNPHTRNQHVSASRVFQSPLESDVSLLNINQAVSCLTAGVLNPELGYDALLVGTQTNLLAYDVYNNSDLFYREVADGANVVVLGTLGDISSPLAIIGGNCALQGFNHEGSDLFWTVTGDNVNSLALCDFDGDGKKELLVGSEDFDIRVFKEDEIVAEMTETEIVTSLCPMYGSRFGYALSNGTVGVYDKTSRYWRIKSKNHAMSIHAFDLNSDGVNELITGWSNGKVDARSDRTGEVIFKDNFSSAIAGVVEGDYRMDGHIQLICCSVDGEIRGYLPGTAEMRGNLMDTSAEQDLIRELSQKKQNLLLELRNYEENAKAELASPLNEADGHRGIIPANTRLHTTLSVSLGNETQTAHTELRISTSNDTIIRAVLIFAEGIFTGESHVVHPSIHNLSSSICIPIVPPKDVPVDLHLKAFVGYRSSTQFHVFESTRQLPRFSMYALTSLDPASEPISYVNFTIAERAQRVVVWLGQNFLLPEDTHIQNAPFQVCFTSLRNGGHLHIKIKLSGEITINTDDIDLAGDIIQSMASFFAIEDLQVEADFPVYFEELRKVLVKVDEYHSVHQKLSADMADHSNLIRSLLVGAEDARLMRDMKTMKSRYMELYDLNRDLLNGYKIRCNNHTELLGNLKAVNQAIQRAGRLRVGKPKNQVITACRDAIRSNNINTLFKIMRVGTASS

• Applicable Applications for anti-BBS2 antibody: Western Blot (WB)
• Application Notes: Suitable for use in Western Blot.
• Immunogen: Full length human BBS2, aa1-721 (AAH14140.1).
• Preparation and Storage: May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for at least 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Western Blot (WB)

(Western Blot analysis of BBS2 expression in transfected 293T cell line by BBS2 polyclonal antibody. Lane 1: BBS2 transfected lysate (79.31kD). Lane 2: Non-transfected lysate.)

Related Product Information for anti-BBS2 antibody

Defects in BBS2 are the cause of Bardet-Biedl syndrome type 2. Bardet-Biedl syndrome is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation.

Product Categories/Family for anti-BBS2 antibody

Antibodies; Abs to Disease Markers

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
• 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 six other BBS proteins.[provided by RefSeq, Jan 2009]

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

Molecular Function: protein binding

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

Disease: Bardet-biedl Syndrome 2