抗人 WDR47 抗体对
01AB02361
WD repeat domain 47 (WDR47) is a microtubule-associated protein characterized by WD40 repeats, which form a beta-propeller structure facilitating protein-protein interactions and scaffolding functions within the cytoskeleton and neuronal cell bodies. WDR47 is highly expressed in the developing and adult brain, particularly in cortical projection neurons, and is essential for neural stem cell proliferation, neuronal migration, axonal and dendritic development, and the stabilization of microtubules. At the molecular level, WDR47 regulates autophagic flux and mitochondrial homeostasis, and its deficiency leads to increased oxidative stress and impaired neuronal survival. Bi-allelic pathogenic variants in WDR47 cause a complex neurodevelopmental syndrome characterized by severe microcephaly, corpus callosum dysgenesis, intellectual disability, and neurodegenerative features, with transcriptomic changes linked to both neurodevelopmental and neurodegenerative disease pathways. Additionally, WDR47 has been associated with Marinesco-Sjogren syndrome and spinocerebellar ataxia, autosomal recessive 25.
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技术参数
- 靶点基因名
- WDR47
- 基因别名
- KIAA0893
- 蛋白别名
- WD repeat domain 47; WDR47
- UniProt
- O94967
- 物种
- Human
产品详情
- 靶点名称
- WDR47
- 蛋白名称
- WD repeat domain 47
- 蛋白别名
- WD repeat-containing protein 47; Neuronal enriched MAP-interacting protein; Nemitin
- 靶点基因名
- WDR47
- 基因别名
- KIAA0893
- UniProt
- O94967
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
WD repeat domain 47 (WDR47) is a microtubule-associated protein characterized by WD40 repeats, which form a beta-propeller structure facilitating protein-protein interactions and scaffolding functions within the cytoskeleton and neuronal cell bodies. WDR47 is highly expressed in the developing and adult brain, particularly in cortical projection neurons, and is essential for neural stem cell proliferation, neuronal migration, axonal and dendritic development, and the stabilization of microtubules. At the molecular level, WDR47 regulates autophagic flux and mitochondrial homeostasis, and its deficiency leads to increased oxidative stress and impaired neuronal survival. Bi-allelic pathogenic variants in WDR47 cause a complex neurodevelopmental syndrome characterized by severe microcephaly, corpus callosum dysgenesis, intellectual disability, and neurodegenerative features, with transcriptomic changes linked to both neurodevelopmental and neurodegenerative disease pathways. Additionally, WDR47 has been associated with Marinesco-Sjogren syndrome and spinocerebellar ataxia, autosomal recessive 25.