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DAP3

Chr 1q22

death associated protein 3

Aliases:
MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058
MANE:
ENST00000368336.10

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Deafness and congenital structural abnormalities

    BIALLELIC, autosomal or pseudoautosomal
  • Monogenic hearing loss

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Perrault syndrome 7

    0.60
  • neurodegenerative disease

    0.49
  • grange syndrome

    0.35
  • Perrault syndrome 1

    0.34
  • psoriasis

    0.28
  • prostate carcinoma

    0.26
  • idiopathic pulmonary fibrosis

    0.24
  • hereditary disease

    0.19
  • atrial fibrillation

    0.17
  • hepatocellular carcinoma

    0.11

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

Protein function (UniProt)

Small ribosomal subunit protein mS29

As a component of the mitochondrial small ribosomal subunit, it plays a role in the translation of mitochondrial mRNAs (PubMed:39701103). Involved in mediating interferon-gamma-induced cell death (PubMed:7499268). Displays GTPase activity in vitro (PubMed:39701103)

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.