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Invitrogen™ BBS12 Polyclonal Antibody
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Catalog No. PIPA522108
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100 μL
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PIPA522108 100 μL
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Catalog No. PIPA522108 Supplier Invitrogen™ Supplier No. PA522108
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Description

Rabbit Polyclonal Antibody

Recommended positive controls: HepG2. Store product as a concentrated solution. Centrifuge briefly prior to opening the vial.

The BBS12 gene is a key contributor to Bardet-Biedl Syndrome (BBS), a rare genetic disorder characterized by primary cilia dysfunction, leading to diverse clinical manifestations such as retinal degeneration, obesity, polydactyly, renal abnormalities, and learning difficulties. BBS12 is located on chromosome 4q27 and encodes a vertebrate-specific chaperonin-like protein. Together with BBS6 and BBS10, BBS12 forms a part of a complex associated with the CCT/TRiC family of chaperonins, which are essential for the proper assembly of the BBSome complex. This complex plays a critical role in the trafficking of vesicles to cilia and is crucial for ciliary function and structure. Mutations in BBS12 are responsible for approximately 5% of BBS cases, underscoring its significant role in the pathophysiology of the syndrome. These mutations often lead to disruptions in ciliary functions, which are pivotal for the syndrome's manifestation.
TRUSTED_SUSTAINABILITY

Specifications

Antigen BBS12
Applications Western Blot
Classification Polyclonal
Concentration 1 mg/mL
Conjugate Unconjugated
Formulation 0.1M tris glycine with 10% glycerol and 0.01% thimerosal; pH 7
Gene BBS12
Gene Accession No. Q6ZW61
Gene Alias Bardet-Biedl syndrome 12; Bardet-Biedl syndrome 12 (human); Bardet-Biedl syndrome 12 protein; Bardet-Biedl syndrome 12 protein homolog; Bbs12; C4orf24; DN-452A22.3; Gm1805; Gm407; Gm721
Gene Symbols BBS12
Host Species Rabbit
Immunogen Recombinant protein encompassing a sequence within the center region of human BBS12. The exact sequence is proprietary.
Purification Method Antigen affinity chromatography
Quantity 100 μL
Regulatory Status RUO
Primary or Secondary Primary
Gene ID (Entrez) 166379
Target Species Human
Content And Storage Store at 4°C short term. For long term storage, store at -20°C, avoiding freeze/thaw cycles.
Product Type Antibody
Form Liquid
Isotype IgG
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