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RPS20

Chr 8q12.1

ribosomal protein S20

Aliases:
S20, uS10
MANE:
ENST00000009589.8

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Cytopenia - NOT Fanconi anaemia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • Diamond-Blackfan anemia

    0.55
  • Blackfan-Diamond anemia

    0.54
  • Duchenne muscular dystrophy

    0.50
  • influenza

    0.46
  • familial colorectal cancer type X

    0.40
  • cystic fibrosis

    0.39
  • COVID-19

    0.37
  • severe acute respiratory syndrome

    0.37
  • neurodegenerative disease

    0.35
  • neuromuscular disease caused by qualitative or quantitative defects of dystrophin

    0.32

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Small ribosomal subunit protein uS10

Component of the small ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.