Goat BBS4 Polyclonal Antibody | anti-BBS4 antibody

BBS4 (Bardet-Biedl Syndrome 4 Protein)

Cat. Num. AAA6009864

• Reactivity: Bovine, Canine, Human, Mouse, Porcine, Rat
• Applications: ELISA, Western Blot
• Purity: Affinity Purified; Purified by immunoaffinity chromatography.
• Synonyms: BBS4; Polyclonal Antibody; BBS4 (Bardet-Biedl Syndrome 4 Protein); Anti -BBS4 (Bardet-Biedl Syndrome 4 Protein); anti-BBS4 antibody

• Host: Goat
• Reactivity: Bovine, Canine, Human, Mouse, Porcine, Rat
• Clonality: Polyclonal
• Specificity: Recognizes human BBS4. Species sequence homology: Bovine, canine, mouse, porcine and rat.
• Purity/Purification: Affinity Purified; Purified by immunoaffinity chromatography.
• Form/Format: Supplied as a liquid in Tris saline, 0.02% sodium azide, pH 7.3, 0.5% BSA.

• Applicable Applications for anti-BBS4 antibody: ELISA (EL/EIA), Western Blot (WB)
• Application Notes: Suitable for use in ELISA and Western Blot.; Dilution: ELISA: 1:32,000; Western Blot: 1-3ug/ml
• Immunogen: Synthetic peptide corresponding to C-NEAAKLNQKDWEISH, from human BBS4, at the Internal region of the protein (NP_149017.2).
• 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.

Chemiluminescence

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

Related Product Information for anti-BBS4 antibody

BBS4 contains tetratricopeptide repeats (TPR), similar to O-linked N-acetyglucosamine transferase. Mutations in the gene encoding this protein have been observed in patients with Bardet-Biedl syndrome type 4. BBS4 may play a role in pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation.

Product Categories/Family for anti-BBS4 antibody

Antibodies; Abs to Disease Markers

NCBI and Uniprot Product Information

• NCBI GI #: 358248275
• NCBI GeneID: 585
• NCBI Accession #: NP_001239607.1
• NCBI GenBank Nucleotide #: NM_001252678.1
• UniProt Accession #: Q96RK4; Q53DZ5; Q8NHU9; Q96H45; B4E178
• Molecular Weight: 58,282 Da
• NCBI Official Full Name: Bardet-Biedl syndrome 4 protein isoform 2
• NCBI Official Synonym Full Names: Bardet-Biedl syndrome 4
• NCBI Official Symbol: BBS4
• NCBI Protein Information: Bardet-Biedl syndrome 4 protein
• UniProt Protein Name: Bardet-Biedl syndrome 4 protein
• Protein Family: Bardet-Biedl syndrome 4 protein
• UniProt Gene Name: BBS4
• UniProt Entry Name: BBS4_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. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's 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 has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with six other BBS proteins. Alternative splice variants have been described but their predicted protein products have not been experimentally verified.[provided by RefSeq, Jan 2009]

Uniprot Description

BBS4: May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. 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 BBS4 are the cause of Bardet-Biedl syndrome type 4 (BBS4). 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. Belongs to the BBS4 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell development/differentiation; Microtubule-binding; Adaptor/scaffold

Chromosomal Location of Human Ortholog: 15q22.3-q23

Cellular Component: centriole; centrosome; pericentriolar material; nonmotile primary cilium; cytosol; cilium

Molecular Function: protein binding; beta-tubulin binding; microtubule motor activity; alpha-tubulin binding

Biological Process: fat cell differentiation; regulation of lipid metabolic process; retinal rod cell development; metabolic process; photoreceptor cell maintenance; positive regulation of multicellular organism growth; retinal homeostasis; protein transport; sensory processing; intracellular transport; visual perception; cytokinesis after mitosis; sensory cilium biogenesis; centrosome organization and biogenesis; brain morphogenesis; dendrite development; cilium biogenesis; heart looping; maintenance of protein localization in nucleus; positive regulation of flagellum biogenesis; striatum development; negative regulation of systemic arterial blood pressure; organelle organization and biogenesis; hippocampus development; sensory perception of smell; microtubule cytoskeleton organization and biogenesis; melanosome transport; regulation of cytokinesis; protein localization in organelle; adult behavior; neural tube closure; cerebral cortex development; spermatid development

Disease: Bardet-biedl Syndrome 4; Bardet-biedl Syndrome 1