C203985Level 4
NOP56 wt Allele
**Semantic type:** Gene or Genome
**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.
**Synonyms:** - NOL5A - NOP56 Ribonucleoprotein Homolog (Yeast) Gene - NOP56 Ribonucleoprotein Homolog Gene - NOP56 Ribonucleoprotein wt Allele - NOP56, S. cerevisiae, Homolog of Gene - Nucleolar Protein 5A (56kD with KKE/D Repeat) Gene - SCA36 - Spinocerebellar Ataxia 36 Gene
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Cross-system equivalences0
No cross-system equivalences mapped for this node.