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ODC1

Chr 2p25.1

ornithine decarboxylase 1

Aliases:
ODC
MANE:
ENST00000234111.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • COVID-19 research

    Unknown
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    Unknown

Disease associations (Open Targets)

  • neurodevelopmental disorder with alopecia and brain abnormalities

    0.72
  • human African trypanosomiasis

    0.49
  • neoplasm

    0.40
  • trypanosomiasis

    0.39
  • neurodevelopmental disorder

    0.37
  • leishmaniasis

    0.37
  • Hirsutism

    0.37
  • autoimmune disorder of central nervous system

    0.35
  • Familial adenomatous polyposis

    0.33
  • neurodegenerative disease

    0.31

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

Protein function (UniProt)

Ornithine decarboxylase

Catalyzes the first and rate-limiting step of polyamine biosynthesis that converts ornithine into putrescine, which is the precursor for the polyamines, spermidine and spermine. Polyamines are essential for cell proliferation and are implicated in cellular processes, ranging from DNA replication to apoptosis

Curated MONDO disease pages that list ODC1 among their top associated genes.

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.