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Invitrogen
CWF19L1 Polyclonal Antibody
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产品信息
PA5-112995
应用
建议稀释比
已发表文章
产品规格
种属反应
Human
宿主/亚型
Rabbit
/ IgG
分类
Polyclonal
类型
Antibody
抗原
Recombinant Human CWF19-like protein 1 protein (101-330AA)
偶联物
形式
Liquid
浓度
2 mg/mL
纯化类型
Protein G
保存液
PBS, pH 7.4, with 50% glycerol
内含物
0.03% ProClin 300
保存条件
-20°C or -80°C if preferred
运输条件
Ambient (domestic); Wet ice (international)
RRID
靶标信息
CWF19L1 (CWF19 Like Cell Cycle Control Factor 1) is a gene located on chromosome 10 and encodes a protein involved in the regulation of mRNA splicing and cell cycle control. The protein interacts with key splicing factors within the nucleus, including components of the U5 small nuclear ribonucleoprotein (snRNP) and the pre-mRNA processing factor 19 (PRPF19) complex. CWF19L1 plays a crucial role in the alternative splicing of immune-related genes, thereby influencing the expression levels of cytotoxic molecules and enhancing T-cell cytotoxicity. Pathogenic variants in CWF19L1 have been linked to a rare autosomal recessive form of hereditary ataxia known as SCAR17 (Spinocerebellar Ataxia, Autosomal Recessive 17), characterized by symptoms such as global developmental delay, cerebellar ataxia, pyramidal signs, and seizures. This gene's deficiency disrupts normal mRNA splicing and leads to significant alterations in gene expression, impacting cellular and neurological functions.
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: C19L1; CWF19-like 1 cell cycle control; CWF19-like protein 1
基因别名: C19L1; CWF19L1; hDrn1; SCAR17
UniProt ID: (Human) Q69YN2
Entrez Gene ID: (Human) 55280
