Invitrogen™ Human BBS12 (aa 612-708) Control Fragment Recombinant Protein

Catalog No.	Quantity
RP103425	100 μL

Catalog No. RP103425 Supplier Invitrogen™ Supplier No. RP103425

Description

Recombinant Protein

Highest antigen sequence indentity to the following orthologs: Mouse (74%), Rat (74%). This recombinant protein control fragment may be used for blocking experiments with the corresponding antibody, PA5-63989. In IHC/ICC and WB experiments, we recommend a 100x molar excess of the protein fragment control based on the concentration and the molecular weight. Pre-incubate the antibody-protein control fragment mixture for 30 min at room temperature.

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.

Specifications

• Accession Number: Q6ZW61
• Concentration: ≥5.0 mg/mL
• For Use With (Application): Neutralization, Control
• Formulation: PBS, 1M urea with no preservative; pH 7.4
• Gene ID (Entrez): 166379
• Name: Human BBS12 (aa 612-708) Control Fragment
• pH Range: 7.4
• Purification Method: Purified
• Quantity: 100 μL
• Storage Requirements: -20°C, Avoid Freeze/Thaw Cycles
• Regulatory Status: RUO
• 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
• Common Name: BBS12
• Gene Symbol: BBS12
• Product Type: Protein
• Conjugate: Unconjugated
• Species: Human
• Recombinant: Recombinant
• Protein Tag: His-ABP-tag
• Sequence: EFEASTYIQHHLQNATDSGSPSSYILNEYSKLNSRIFNSDISNKLEQIPRVYDVVTPKIEAWRRALDLVLLVLQTDSEIITGHGHTQINSQELTGFL
• Content And Storage: -20°C, Avoid Freeze/Thaw Cycles
• Expression System: E. coli
• Form: Liquid
• Purity or Quality Grade: >80% by SDS-PAGE and Coomassie blue staining