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RPL35A

Chr 3q29

ribosomal protein L35a

Aliases:
L35A, eL33, GIG33
MANE:
ENST00000647248.2

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Cytopenia - NOT Fanconi anaemia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Cytopenias and congenital anaemias

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Haematological malignancies cancer susceptibility

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Haematological malignancies for rare disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Limb disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Radial dysplasia

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Rare anaemia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • Blackfan-Diamond anemia

    0.81
  • Diamond-Blackfan anemia

    0.72
  • inherited bone marrow failure syndrome

    0.50
  • Duchenne muscular dystrophy

    0.50
  • influenza

    0.46
  • neurodegenerative disease

    0.46
  • acute myeloid leukemia with minimal differentiation

    0.46
  • cystic fibrosis

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

    0.32
  • Becker muscular dystrophy

    0.29

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

Protein function (UniProt)

Large ribosomal subunit protein eL33

Component of the large ribosomal subunit (PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:32669547). Required for the proliferation and viability of hematopoietic cells (PubMed:18535205)

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.