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Invitrogen
BBS12 Polyclonal Antibody
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产品信息
PA5-63989
产品规格
种属反应
Human
宿主/亚型
Rabbit
/ IgG
分类
Polyclonal
类型
Antibody
抗原
偶联物
形式
Liquid
浓度
0.05 mg/mL
纯化类型
Antigen affinity chromatography
保存液
PBS, pH 7.2, with 40% glycerol
内含物
0.02% sodium azide
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
Immunogen sequence: EFEASTYIQH HLQNATDSGS PSSYILNEYS KLNSRIFNSD ISNKLEQIPR VYDVVTPKIE AWRRALDLVL LVLQTDSEII TGHGHTQINS QELTGFL
Highest antigen sequence identity to the following orthologs: Mouse - 74%, Rat - 78%.
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.
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
