Goat BBS7 Polyclonal Antibody | anti-BBS7 antibody

Goat anti-BBS7 Antibody

Cat. Num. AAA423004

• Gene Names: BBS7; BBS2L1
• Reactivity: Tested: Human, Rat; Expected from sequence similarity: Human, Mouse, Rat, Dog, Cow
• Applications: ELISA, Western Blot
• Purity: Purified from goat serum by ammonium sulphate precipitation followed by antigen affinity chromatography using the immunizing peptide.
• Synonyms: BBS7; Polyclonal Antibody; Goat anti-BBS7 Antibody; Bardet-Biedl syndrome 7; BBS2L1; FLJ10715; BBS2-like 1; Bardet-Biedl syndrome 7 protein; Bardet-Biedl syndrome 7 antibody; Bardet-Biedl syndrome 7 protein antibody; BBS2L1 antibody; BBS2-like 1 antibody; FLJ10715 antibody; BBS7 antibody; anti-BBS7 antibody

• Host: Goat
• Reactivity: Tested: Human, Rat; Expected from sequence similarity: Human, Mouse, Rat, Dog, Cow
• Clonality: Polyclonal
• Purity/Purification: Purified from goat serum by ammonium sulphate precipitation followed by antigen affinity chromatography using the immunizing peptide.
• Form/Format: Supplied at 0.5 mg/ml in Tris saline, 0. 02% sodium azide, pH7.3 with 0.5% bovine serum albumin.
• Concentration: 100ug specific antibody in 200ul (varies by lot)
• Sequence: HCILEEADHLQE
• Sequence Length: 715

• Applicable Applications for anti-BBS7 antibody: Peptide ELISA (EIA), Western Blot (WB)
• Application Notes: Peptide ELISA: Antibody detection limit dilution 1: 128000.; Western Blot: Approx 80kDa band observed in Human and Rat Skeletal Muscle lysates (calculated MW of 80.4kDa according to NP_789794.1). Recommended concentration: 1-3ug/ml.
• Immunogen: Peptide with sequence HCILEEADHLQE, from the internal region of the protein sequence according to NP_789794.1; NP_060660.2.
• Epitope: Internal region
• Note: This antibody is expected to recognize both isoforms (NP_789794.1; NP_060660.2).
• Preparation and Storage: Aliquot and store at -20 degree C. Minimize freezing and thawing.

Western Blot (WB)

((1ug/ml) staining of Human Skeletal Muscle lysate (35ug protein in RIPA buffer). Primary incubation was 1 hour. Detected by chemiluminescence.)

Western Blot (WB)

((0.5ug/ml) staining of Rat Skeletal Muscle lysate (35ug protein in RIPA buffer). Primary incubation was 1 hour. Detected by chemiluminescence.)

NCBI and Uniprot Product Information

• NCBI GI #: 29029557
• NCBI GeneID: 55212
• NCBI Accession #: NP_789794.1; NP_060660.2
• NCBI GenBank Nucleotide #: NM_176824.2
• Molecular Weight: 75,446 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
• 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 eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. 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, Oct 2014]

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: axoneme; centrosome; cytosol; membrane; nucleus; photoreceptor outer segment

Molecular Function: protein binding

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

Disease: Bardet-biedl Syndrome 7