其他名称： PRPF31; PRP31; U4/U6 small nuclear ribonucleoprotein Prp31; Pre-mRNA-processing factor 31; Serologically defined breast cancer antigen NY-BR-99; U4/U6 snRNP 61 kDa protein; Protein 61K; hPrp31
实测条带： 55kD
信号通路： Spliceosome;
功能： disease:Defects in PRPF31 are the cause of retinitis pigmentosa type 11 (RP11) [MIM:600138]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP11 inheritance is autosomal dominant.,function:Involved in pre-mRNA splicing. Required for U4/U6.U5 tri-snRNP formation.,similarity:Contains 1 Nop domain.,subcellular location:Predominantly found in speckles and in Cajal bodies.,subunit:Part of a tri-snRNP complex. Interacts with C20orf14/U5 snRNP-associated 102 kDa protein.,tissue specificity:Ubiquitously expressed.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus . Nucleus speckle . Nucleus, Cajal body . Predominantly found in speckles and in Cajal bodies. .
其他名称： PRPF31; PRP31; U4/U6 small nuclear ribonucleoprotein Prp31; Pre-mRNA-processing factor 31; Serologically defined breast cancer antigen NY-BR-99; U4/U6 snRNP 61 kDa protein; Protein 61K; hPrp31
实测条带： 55kD
信号通路： Spliceosome;
功能： disease:Defects in PRPF31 are the cause of retinitis pigmentosa type 11 (RP11) [MIM:600138]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP11 inheritance is autosomal dominant.,function:Involved in pre-mRNA splicing. Required for U4/U6.U5 tri-snRNP formation.,similarity:Contains 1 Nop domain.,subcellular location:Predominantly found in speckles and in Cajal bodies.,subunit:Part of a tri-snRNP complex. Interacts with C20orf14/U5 snRNP-associated 102 kDa protein.,tissue specificity:Ubiquitously expressed.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus . Nucleus speckle . Nucleus, Cajal body . Predominantly found in speckles and in Cajal bodies. .
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