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Invitrogen
Human BBS12 (aa 612-708) Control Fragment Recombinant Protein
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Product Details
RP-103425
Applications
Tested Dilution
Publications
Product Specifications
Species
Human
Expression System
E. coli
Amino acid sequence
EFEASTYIQHHLQNATDSGSPSSYILNEYSKLNSRIFNSDISNKLEQIPRVYDVVTPKIEAWRRALDLVLLVLQTDSEIITGHGHTQINSQELTGFL
Tag
His-ABP-tag
Class
Recombinant
Type
Protein
Purity
>80% by SDS-PAGE and Coomassie blue staining
Conjugate
Form
Liquid
Concentration
≥5.0 mg/mL
Purification
purified
Storage buffer
PBS/1M urea, pH 7.4
Contains
no preservative
Storage conditions
-20°C, Avoid Freeze/Thaw Cycles
Product Specific Information
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.
Target Information
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
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Bioinformatics
Protein Aliases: Bardet-Biedl syndrome 12 protein; Chaperonin-containing T-complex member BBS12
Gene Aliases: BBS12; C4orf24
UniProt ID: (Human) Q6ZW61
Entrez Gene ID: (Human) 166379
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