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Invitrogen
CCDC114 Polyclonal Antibody
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产品信息
PA5-60012
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
0.7 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: SKDDQHLLQE QQQKVLQQRM DKVHSEAERL EARFQDVRGQ LEKLKADIQL LFTKAHCDSS MIDDLLGVKT SMGDRDMGLF LSLIEKRLVE
Highest antigen sequence identity to the following orthologs: Mouse - 68%, Rat - 70%.
靶标信息
The CCDC114 gene, located on chromosome 19, encodes a protein that is a key component of the structure and function of cilia, which are hair-like organelles present on the surface of many cell types. Structurally, CCDC114 belongs to the coiled-coil domain-containing family, which plays crucial roles in cellular organizations and motility. Functionally, CCDC114 is involved in forming the outer dynein arm of cilia, essential for their motility. Mutations in CCDC114 can lead to defects in ciliary structure, resulting in primary ciliary dyskinesia (PCD), a condition characterized by chronic respiratory tract infections, abnormal organ positioning, and other symptoms. Specifically, mutations like c.742G>A and c.584T>C have been identified to cause variant forms of PCD, as well as situs inversus, which is a complete mirror image reversal of the body's internal organ arrangement. Genetic investigations have shown that these mutations can significantly disrupt the function of cilia, confirming CCDC114's critical role in human ciliopathies.
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: Coiled-coil domain-containing protein 114; Outer dynein arm-docking complex subunit 1
基因别名: CCDC114; CILD20; ODAD1
UniProt ID: (Human) Q96M63
Entrez Gene ID: (Human) 93233
