Invitrogen

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

Name: Human BBS12 (aa 612-708) Control Fragment Recombinant Protein
Brand: Invitrogen
SKU: RP-103425
Availability: InStock

Datasheet

Tech Support

Datasheet

Tech Support

Product Details

RP-103425

Applications

Tested Dilution

Publications

Control (Ctrl)

Assay-dependent

Blocking Assay (BLOCK)

Assay-dependent

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

Unconjugated Unconjugated Unconjugated

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