Rabbit anti-Human BBS7 Polyclonal Antibody | anti-BBS7 antibody

BBS7, NT (BBS7, BBS2L1, Bardet-Biedl syndrome 7 protein, BBS2-like protein 1)

Cat. Num. AAA6007233

• Gene Names: BBS7; BBS2L1
• Reactivity: Human
• Applications: ELISA, Western Blot
• Purity: Affinity Purified; Purified by Protein A affinity chromatography.
• Synonyms: BBS7; Polyclonal Antibody; NT (BBS7; BBS2L1; Bardet-Biedl syndrome 7 protein; BBS2-like protein 1); Anti -BBS7; anti-BBS7 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Human
• Purity/Purification: Affinity Purified; Purified by Protein A affinity chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2, 0.09% sodium azide.

• Applicable Applications for anti-BBS7 antibody: ELISA (EL/EIA), Western Blot (WB)
• Application Notes: Suitable for use in Western Blot, ELISA; Dilution: ELISA: 1:1,000; Western Blot: 1:100-500
• Immunogen: BBS7 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 72-99 amino acids from the N-terminal region of human BBS7.
• 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 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Western Blot (WB)

(BBS7 Antibody (N-term) western blot analysis in NCI-H292 cell line lysates (35ug/lane).This demonstrates the BBS7 antibody detected the BBS7 protein (arrow).)

Related Product Information for anti-BBS7 antibody

Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 7. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. Two transcript variants encoding distinct isoforms have been identified for this gene.

Product Categories/Family for anti-BBS7 antibody

Antibodies; Abs to Disease Markers

NCBI and Uniprot Product Information

• NCBI GI #: 29029557
• NCBI GeneID: 55212
• NCBI Accession #: NP_789794.1
• NCBI GenBank Nucleotide #: NM_176824.2
• UniProt Accession #: Q8IWZ6; Q4W5P8; Q8N581; Q9NVI4
• Molecular Weight: 80,353 Da
• NCBI Official Full Name: Bardet-Biedl syndrome 7 protein isoform a
• NCBI Official Synonym Full Names: Bardet-Biedl syndrome 7
• NCBI Official Symbol: BBS7
• NCBI Official Synonym Symbols: BBS2L1
• NCBI Protein Information: Bardet-Biedl syndrome 7 protein; BBS2-like 1; BBS2-like protein 1
• UniProt Protein Name: Bardet-Biedl syndrome 7 protein
• Protein Family: Bardet-Biedl syndrome 7 protein
• UniProt Gene Name: BBS7
• UniProt Synonym Gene Names: BBS2L1
• UniProt Entry Name: BBS7_HUMAN

NCBI Description

This gene encodes one of seven proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS9. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Feb 2011]

Uniprot Description

BBS7: 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. Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including BBS7, influence the clinical outcome. Defects in BBS7 are a cause of Bardet-Biedl syndrome type 7 (BBS7). Bardet-Biedl syndrome (BBS) is a genetically heterogeneous 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. Inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for disease manifestation in some cases (triallelic inheritance). 2 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 4q27

Cellular Component: centrosome; axoneme; nucleus; cytosol

Molecular Function: protein binding

Biological Process: limb development; fat cell differentiation; smoothened signaling pathway; organelle organization and biogenesis; pigment granule aggregation in cell center; digestive tract morphogenesis; palate development; melanosome transport; regulation of transcription from RNA polymerase II promoter; protein transport; eye development; visual perception; sensory cilium biogenesis; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; heart looping; brain development; determination of left/right symmetry

Disease: Bardet-biedl Syndrome 7