Aliases for NOP56 Gene
External Ids for NOP56 Gene
Previous HGNC Symbols for NOP56 Gene
Previous GeneCards Identifiers for NOP56 Gene
Nop56p is a yeast nucleolar protein that is part of a complex with the nucleolar proteins Nop58p and fibrillarin. Nop56p is required for assembly of the 60S ribosomal subunit and is involved in pre-rRNA processing. The protein encoded by this gene is similar in sequence to Nop56p and is also found in the nucleolus. Expansion of a GGCCTG repeat from 3-8 copies to 1500-2500 copies in an intron of this gene results in spinocerebellar ataxia 36. Multiple transcript variants encoding several different isoforms have been found for this gene, but the full-length nature of most of them has not been determined. [provided by RefSeq, Jul 2016]
GeneCards Summary for NOP56 Gene
NOP56 (NOP56 Ribonucleoprotein) is a Protein Coding gene. Diseases associated with NOP56 include Spinocerebellar Ataxia 36 and Oromandibular Dystonia. Among its related pathways are Gene Expression and Chaperonin-mediated protein folding. Gene Ontology (GO) annotations related to this gene include snoRNA binding.
UniProtKB/Swiss-Prot for NOP56 Gene
Involved in the early to middle stages of 60S ribosomal subunit biogenesis. Core component of box C/D small nucleolar ribonucleoprotein (snoRNP) particles. Required for the biogenesis of box C/D snoRNAs such U3, U8 and U14 snoRNAs.