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RPL17

Chr 18q21.1

ribosomal protein L17

Aliases:
rpL23, L17, uL22
MANE:
ENST00000580261.6

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Cytopenia - NOT Fanconi anaemia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Rare anaemia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Limb disorders

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • Duchenne muscular dystrophy

    0.50
  • influenza

    0.47
  • cystic fibrosis

    0.39
  • neuromuscular disease caused by qualitative or quantitative defects of dystrophin

    0.32
  • Becker muscular dystrophy

    0.29
  • Diamond-Blackfan anemia

    0.27
  • macrocytic anemia

    0.27
  • Pancytopenia

    0.27
  • fetal growth restriction

    0.27
  • attention deficit-hyperactivity disorder

    0.27

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

Protein function (UniProt)

Large ribosomal subunit protein uL22

Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962325, PubMed:23636399, PubMed:32669547)

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.