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GenoLensGenoLens

SUCO

Chr 1q24.3

SUN domain containing ossification factor

Aliases:
CH1, SLP1, OPT
MANE:
ENST00000263688.4

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Osteogenesis imperfecta

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • osteogenesis imperfecta

    0.25
  • skeletal dysplasia

    0.23
  • Osteopenia

    0.23
  • breast cancer

    0.11
  • venous thromboembolism

    0.11
  • hepatocellular carcinoma

    0.08
  • Hypocalcemic vitamin D-dependent rickets

    0.06
  • head and neck squamous cell carcinoma

    0.06
  • Hypocalcemic vitamin D-resistant rickets

    0.06
  • hereditary hypophosphatemic rickets with hypercalciuria

    0.05

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

Protein function (UniProt)

SUN domain-containing ossification factor

Required for bone modeling during late embryogenesis. Regulates type I collagen synthesis in osteoblasts during their postnatal maturation (By similarity)

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.