产品展示
Anti-ATXN3L小脑脊髓共济失调蛋白3抗体
点击次数：246发布时间：2012/12/26 5:18:35
更新日期：2024/9/5 14:43:27
所 在 地：其它
产品型号：BY-4807R
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详细内容
货号：BY-4807R
英文名称：Anti-ATXN3L
中文名称：小脑脊髓共济失调蛋白3抗体
其他名称：ATX3; ATXN3; SCA3; Ataxin 3; Ataxin-3; Ataxin3; Spinocerebellar ataxia type 3.
抗体来源：Rabbit
克隆类型：polyclonal
蛋白分子量：predicted molecular weight: 40kDa
纯化方法：affinity purified by Protein A
交叉反应：hu
产品介绍：Defects in ATXN3 are the cause of spinocerebellar ataxia type 3 （SCA3） ; also known as Machado-Joseph disease （MJD）. Spinocerebellar ataxia is a clinically ａnd genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait ａnd often poor coordination of hands, speech ａnd eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem ａnd spinal cord. SCA3 belongs to the autosomal dominant cerebellar ataxias type I （ADCA I） which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar ａnd extrapyramidal signs, peripheral neuropathy ａnd dementia. The molecular defect in SCA3 is the a CAG repeat expansion in ATXN3 coding region. Longer expansions result in earlier onset ａnd more severe clinical manifestations of the disease.Subunit : Homodimer; disulfide-linked. Interacts with acid phingomyelinase/SMPD1.Subcellular Location : Membrane; Single-pass type II membrane protein （Potential）.Tissue Specificity : Expressed in a subset of NK cells predominantly in intestinal epithelium ａnd liver. Detected in peripheral blood T-cells ａnd preferentially in adult T-cells with a memory antigenic phenotype.Similarity : Contains 1 C-type lectin domain.
