Rabbit anti-Human, Mouse BBS4 Polyclonal Antibody | anti-BBS4 antibody

BBS4 (Bardet-Biedl Syndrome 4 Protein)

Cat. Num. AAA645655

• Reactivity: Human, Mouse
• Applications: Western Blot, Immunoprecipitation
• Purity: Serum; Serum
• Synonyms: BBS4; Polyclonal Antibody; BBS4 (Bardet-Biedl Syndrome 4 Protein); Anti -BBS4 (Bardet-Biedl Syndrome 4 Protein); anti-BBS4 antibody

• Host: Rabbit
• Reactivity: Human, Mouse
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Recognizes human BBS4. Species Crossreactivity: mouse.
• Purity/Purification: Serum; Serum
• Form/Format: Supplied as a liquid.
• Sequence: MAEERVATRTQFPVSTESQKPRQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAIYVQALIFRLEGNIQESLELFQTCAVLSPQSADNLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHNALNLNRHDLTYIMLGKIHLLEGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYKAILAAGSMMQTHGDFDVALTKYRVVACAVPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQPKMGELYMLLAVALTNLEDIENAKRAYAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEMVEMAQKLGAALQVGEALVWTKPVKDPKSKHQTTSTSKPASFQQPLGSNQALGQAMSSAAAYRTLPSGAGGTSQFTKPPSLPLEPEPAVESSPTETSEQIREK

• Applicable Applications for anti-BBS4 antibody: Western Blot (WB), Immunoprecipitation (IP)
• Application Notes: Suitable for use in Western Blot and Immunoprecipitation.
• Immunogen: Full length human BBS4, aa1-519 (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.

Western Blot (WB)

(BBS4 rabbit polyclonal antibody. Western Blot analysis of BBS4 expression in mouse liver.)

Western Blot (WB)

(Western Blot analysis of BBS4 expression in transfected 293T cell line by BBS4 polyclonal antibody. Lane 1: BBS4 transfected lysate (58.3kD). Lane 2: Non-transfected lysate.)

Immunoprecipitation (IP)

(Immunoprecipitation of BBS4 transfected lysate using BBS4 rabbit polyclonal antibody and Protein A Magnetic Bead and immunoblotted with BBS4 purified mouse polyclonal antibody.)

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

Function: 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. Ref.7 Ref.10

Subunit structure: Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex binds to PCM1 and tubulin. Interacts with DCTN1. Interacts with CCDC28B. Interacts with ALDOB. Ref.6 Ref.7 Ref.8 Ref.10

Subcellular location: Cytoplasm › cytoskeleton › microtubule organizing center › centrosome. Cytoplasm › cytoskeleton. Cell projection › cilium membrane. Cytoplasm. Cytoplasm › cytoskeleton › microtubule organizing center › centrosome › centriolar satellite. Note: Localizes to the pericentriolar region throughout the cell cycle. Centrosomal localization requires dynein. Ref.7 Ref.10

Tissue specificity: Ubiquitously expressed. The highest level of expression is found in the kidney.

Involvement in disease: Bardet-Biedl syndrome 4 (BBS4) [MIM:209900]: A syndrome 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. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.9 Ref.11 Ref.12 Ref.13 Ref.14

Sequence similarities: Belongs to the BBS4 family.Contains 10 TPR repeats.