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Invitrogen
BBS12 Polyclonal Antibody
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产品信息
PA5-22108
产品规格
种属反应
Human
宿主/亚型
Rabbit
/ IgG
分类
Polyclonal
类型
Antibody
抗原
Recombinant protein encompassing a sequence within the center region of human BBS12. The exact sequence is proprietary.
偶联物
形式
Liquid
浓度
1 mg/mL
纯化类型
Antigen affinity chromatography
保存液
0.1M tris glycine, pH 7, with 10% glycerol
内含物
0.01% thimerosal
保存条件
Store at 4°C short term. For long term storage, store at -20°C, avoiding freeze/thaw cycles.
运输条件
Ambient (domestic); Wet ice (international)
RRID
产品详细信息
Recommended positive controls: HepG2.
Store product as a concentrated solution. Centrifuge briefly prior to opening the vial.
靶标信息
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.
⚠WARNING: This product can expose you to chemicals including mercury, which is known to the State of California to cause birth defects or other reproductive harm. For more information go to www.P65Warnings.ca.gov.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
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生物信息学
蛋白别名: Bardet-Biedl syndrome 12 protein; Chaperonin-containing T-complex member BBS12
基因别名: BBS12; C4orf24
UniProt ID: (Human) Q6ZW61
Entrez Gene ID: (Human) 166379
