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Product Details
PA5-63989
Product Specifications
Species Reactivity
Human
Host/Isotype
Rabbit
/ IgG
Class
Polyclonal
Type
Antibody
Immunogen
Recombinant protein corresponding to Human BBS12. Recombinant protein control fragment (Product #RP-103425).
Conjugate
Form
Liquid
Concentration
0.05 mg/mL
Purification
Antigen affinity chromatography
Storage buffer
PBS, pH 7.2, with 40% glycerol
Contains
0.02% sodium azide
Storage conditions
Store at 4°C short term. For long term storage, store at -20°C, avoiding freeze/thaw cycles.
Shipping conditions
Ambient (domestic); Wet ice (international)
RRID
AB_2638487
Product Specific Information
Immunogen sequence: EFEASTYIQH HLQNATDSGS PSSYILNEYS KLNSRIFNSD ISNKLEQIPR VYDVVTPKIE AWRRALDLVL LVLQTDSEII TGHGHTQINS QELTGFL
Highest antigen sequence identity to the following orthologs: Mouse - 74%, Rat - 78%.
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
Performance Guarantee
If an Invitrogen™ antibody doesn't perform as described on our website or datasheet,we'll replace the product at no cost to you, or provide you with a credit for a future purchase.*
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