NOP56 Chromosome 20
NOP56 ribonucleoprotein
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What This Gene Does
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]
Gene Info
Gene Group
"U3 small nucleolar ribonucleoprotein|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes"
Locus Type
gene with protein product
Location
20p13
Ensembl
ENSG00000101361
Associated Conditions (2)
Inborn genetic diseases
Spinocerebellar ataxia type 36
Key Variants
RS138832466
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1295942947
Likely pathogenic
Spinocerebellar ataxia type 36, Spinocerebellar ataxia type 36
Health Risk
RS1555779353
Pathogenic
Spinocerebellar ataxia type 36, Spinocerebellar ataxia type 36
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138832466 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1295942947 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 36, Spinocerebellar ataxia type 36 |
| RS1555779353 | Health Risk | Pathogenic | Spinocerebellar ataxia type 36, Spinocerebellar ataxia type 36 |