NOP56 Antibody

1. Genetic and clinical analysis of spinocerebellar ataxia type 36 in Mainland China, with its causative mutation as a hexanucleotide GGCCTG repeat expansion in intron 1 of the NOP56 gene, has been described. PMID: 26661328
2. Studies indicate that the causative mutation for spinocerebellar ataxias SCA36, namely intronic hexanucleotide GGCCTG expansion in NOP56 gene, has been identified. PMID: 26663071
3. We newly found intronic hexanucleotide GGCCTG gene expansion in NOP56 gene as the causative mutation in nine unrelated Japanese familial hereditary spinocerebellar ataxia patients PMID: 22353375
4. This study demonistrated that NOP56 mutation is response spinocerebellar ataxia 36 in Spainish family. PMID: 22492559
5. Expansion of the intronic GGCCTG hexanucleotide repeat in NOP56 causes a unique form of spinocerebellar ataxias, SCA36, which shows not only ataxia but also motor neuron dysfunction. PMID: 21683323
6. hNop56p functions in the early to middle stages of 60 S subunit synthesis in human cells and has functional similarities with treacle-associated ribonucleoproteins PMID: 12777385
7. Data demonstrate that fibrillarin and Nop56 directly interact in vivo, and that this interaction is indispensable for the association of both proteins with the box C/D snoRNPs. PMID: 19331828
8. snoRNP assembly factor NUFIP can regulate the interactions between TIP48 and TIP49 and the core box C/D proteins. PMID: 19620283

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HGNC: 15911

OMIM: 614153

KEGG: hsa:10528

STRING: 9606.ENSP00000370589

UniGene: Hs.376064