NOP56

Chr 20

NOP56 ribonucleoprotein

Also known as: NOL5A, SCA36

NCBI Gene: 10528 ENSG00000101361 UniProt: O00567

NOP56 encodes a nucleolar protein that is essential for 60S ribosomal subunit biogenesis and functions as a core component of box C/D small nucleolar ribonucleoprotein complexes involved in ribosomal RNA methylation. Expansion of a GGCCTG repeat in an intron causes spinocerebellar ataxia 36, an autosomal dominant progressive cerebellar disorder. The gene shows high constraint against loss-of-function variants (LOEUF 0.404), indicating intolerance to haploinsufficiency.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpinocerebellar ataxia 36

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.40

LOEUF

Multiple*

Mechanism· predicted

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GeneReview available — NOP56