
跨膜蛋白48
产品名称: 跨膜蛋白48
英文名称: NDC1
产品编号: bs-19057R
产品价格: null
产品产地: 北京
品牌商标: BIOSS
更新时间: 2025-07-01T13:44:12
使用范围: WB=1:100-500,ELISA=1:500-1000,IHC-P=1:100-500,IHC-F=1:100-500,ICC=1:100-500,IF=1:100-500,
北京索莱宝科技有限公司
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NDC1 is a 674 amino acid multi-pass membrane protein, central core structure of the nuclear pore complex (NPC) and member of the NDC1 family that is crucial for selective nuclear protein import. Existing as four alternatively spliced isoforms that are encoded by a gene located on human chromosome 1, NDC1 interacts with Nup35 and anchors Aladin to the nuclear envelope of the NPC, a region of macromolecular transport between the nucleus and cytoplasm. In the absence of NDC1, Aladin becomes mislocalized and may lead to the development of an autosomal recessive disorder termed achalasia-addisonianism-alacrima (triple A) syndrome. Triple A syndrome is characterized by achalasia, alacrima and adrenocortico-tropin-resistant adrenal insufficiency. Robust expression in neural systems associated with cognitive, motor and sensory functions is consistent with the myriad of symptoms experienced by patients with triple A syndrome.