NOP56 wt Allele

Preferred Label : NOP56 wt Allele;

NCIt synonyms : Nucleolar Protein 5A (56kD with KKE/D Repeat) Gene; SCA36; NOP56 Ribonucleoprotein wt Allele; NOL5A; Spinocerebellar Ataxia 36 Gene; NOP56, S. cerevisiae, Homolog of Gene; NOP56 Ribonucleoprotein Homolog Gene; NOP56 Ribonucleoprotein Homolog (Yeast) Gene;

NCIt definition : Human NOP56 wild-type allele is located in the vicinity of 20p13 and is approximately 6 kb in length. This allele, which encodes nucleolar protein 56, plays a role in ribosome biogenesis. Expansion of a hexanucleotide repeat (GGCCTG) from 3-8 copies to 1500-2500 copies within intron 1 of this gene is associated with spinocerebellar ataxia 36.;

NCI Metathesaurus CUI : CL1926281;

GenBank Accession Number : Y12065;

Details

Origin ID

C203985;

UMLS CUI

C5890862;

OMIM relation
- Nop56 ribonuclear protein [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 20p13 [NCIt concept]
gene_plays_role_in_process
- RNA Binding [NCIt concept]
- RNA Processing [NCIt concept]
- Translation Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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