功能： disease:Defects in SNAI2 are a cause of neural tube defects (NTD).,disease:Defects in SNAI2 are the cause of Waardenburg syndrome type 2D (WS2D) [MIM:608890]. WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1.,function:Transcriptional repressor. Involved in the generation and migration of neural crest cells.,similarity:Belongs to the snail C2H2-type zinc-finger protein family.,similarity:Contains 5 C2H2-type zinc fingers.,tissue specificity:Expressed in placenta and adult heart, pancreas, liver, kidney and skeletal muscle.,
相關產品： RS0001,RS0002,YM3028,YM3333
細胞定位： Nucleus . Cytoplasm. Observed in discrete foci in interphase nuclei. These nuclear foci do not overlap with the nucleoli, the SP100 and the HP1 heterochromatin or the coiled body, suggesting SNAI2 is associated with active transcription or active splicing regions.
組織表達： Expressed in most adult human tissues, including spleen, thymus, prostate, testis, ovary, small intestine, colon, heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Not detected in peripheral blood leukocyte. Expressed in the dermis and in all layers of the epidermis, with high levels of expression in the basal layers (at protein level). Expressed in osteoblasts (at protein level). Expressed in mesenchymal stem cells (at protein level). Expressed in breast tumor cells (at protein level).
功能： disease:Defects in SNAI2 are a cause of neural tube defects (NTD).,disease:Defects in SNAI2 are the cause of Waardenburg syndrome type 2D (WS2D) [MIM:608890]. WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1.,function:Transcriptional repressor. Involved in the generation and migration of neural crest cells.,similarity:Belongs to the snail C2H2-type zinc-finger protein family.,similarity:Contains 5 C2H2-type zinc fingers.,tissue specificity:Expressed in placenta and adult heart, pancreas, liver, kidney and skeletal muscle.,
相關產品： RS0001,RS0002,YM3028,YM3333
細胞定位： Nucleus . Cytoplasm. Observed in discrete foci in interphase nuclei. These nuclear foci do not overlap with the nucleoli, the SP100 and the HP1 heterochromatin or the coiled body, suggesting SNAI2 is associated with active transcription or active splicing regions.
組織表達： Expressed in most adult human tissues, including spleen, thymus, prostate, testis, ovary, small intestine, colon, heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Not detected in peripheral blood leukocyte. Expressed in the dermis and in all layers of the epidermis, with high levels of expression in the basal layers (at protein level). Expressed in osteoblasts (at protein level). Expressed in mesenchymal stem cells (at protein level). Expressed in breast tumor cells (at protein level).
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