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Product Details
BS-11505R
Applications
Tested Dilution
Publications
Product Specifications
Species Reactivity
Human,
Mouse
Host/Isotype
Rabbit
/ IgG
Class
Polyclonal
Type
Antibody
Immunogen
KLH conjugated synthetic peptide derived from human BBS12, amino acids 25-100.
Conjugate
Form
Liquid
Concentration
1 mg/mL
Purification
Protein A
Storage buffer
0.01M TBS, pH 7.4, with 50% glycerol, 1% BSA
Contains
0.02% ProClin 300
Storage conditions
-20°C
Shipping conditions
Ambient (domestic); Wet ice (international)
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; Bardet-Biedl syndrome 12 protein homolog; Chaperonin-containing T-complex member BBS12; DN-452A22.3
Gene Aliases: BBS12; C4orf24; Gm1805; Gm407; Gm721
UniProt ID: (Human) Q6ZW61, (Mouse) Q5SUD9
Entrez Gene ID: (Human) 166379, (Mouse) 241950
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