NOP56

NOP56 ribonucleoprotein

Ensembl:
ENSG00000101361
UniProt:
O00567
OMIM:
614154
Synonyms:
NOL5A, SCA36

Cilia effects upon perturbation of NOP56

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.05) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Human ciliopathy phenotype:
spinocerebellar ataxia type 36

Subcellular localization

cilia associated gene, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Protein processing & maturation

Function

Mutations in the NOP56 gene cause Spinocerebellar Ataxia (PMID: 21683323).