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HPGD

Chr 4q34.1

15-hydroxyprostaglandin dehydrogenase

Aliases:
SDR36C1
MANE:
ENST00000296522.11

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Autosomal recessive primary hypertrophic osteoarthropathy

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hypertrophic osteoarthropathy, primary, autosomal recessive, 1

    0.75
  • cranio-osteoarthropathy

    0.71
  • isolated congenital digital clubbing

    0.68
  • Pachydermoperiostosis

    0.62
  • hereditary disease

    0.19
  • dyshidrosis

    0.15
  • ovarian neoplasm

    0.13
  • placenta praevia

    0.13
  • hepatocellular carcinoma

    0.11
  • Varicose veins

    0.10

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

Protein function (UniProt)

15-hydroxyprostaglandin dehydrogenase [NAD(+)]

Catalyzes the NAD-dependent dehydrogenation (oxidation) of a broad array of hydroxylated polyunsaturated fatty acids (mainly eicosanoids and docosanoids, including prostaglandins, lipoxins and resolvins), yielding their corresponding keto (oxo) metabolites (PubMed:10837478, PubMed:16757471, PubMed:16828555, PubMed:21916491, PubMed:25586183, PubMed:8086429). Decreases the levels of the pro-proliferative prostaglandins such as prostaglandin E2 (whose activity is increased in cancer because of an increase in the expression of cyclooxygenase 2) and generates oxo-fatty acid products that can profoundly influence cell function by abrogating pro-inflammatory cytokine expression (PubMed:15574495, PubMed:25586183). Converts resolvins E1, D1 and D2 to their oxo products, which represents a mode of resolvin inactivation. Resolvin E1 plays important roles during the resolution phase of acute inflammation, while resolvins D1 and D2 have a unique role in obesity-induced adipose inflammation (PubMed:16757471, PubMed:22844113)

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.