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ADAMTS9

Chr 3p14.1

ADAM metallopeptidase with thrombospondin type 1 motif 9

Aliases:
KIAA1312
MANE:
ENST00000498707.5

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Renal ciliopathies

    BIALLELIC, autosomal or pseudoautosomal
  • Tubulointerstitial kidney disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • type 2 diabetes mellitus

    0.52
  • diabetes mellitus

    0.48
  • nephronophthisis

    0.45
  • smoking behavior

    0.44
  • Abnormality of the skeletal system

    0.44
  • age-related macular degeneration

    0.42
  • colorectal cancer

    0.41
  • gout

    0.41
  • prostate carcinoma

    0.38
  • COVID-19

    0.38

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

Protein function (UniProt)

A disintegrin and metalloproteinase with thrombospondin motifs 9

Cleaves the large aggregating proteoglycans, aggrecan (at the '1838-Glu-|-Ala-1839' site) and versican (at the '1428-Glu-|-Ala-1429' site). Has a protease-independent function in promoting the transport from the endoplasmic reticulum to the Golgi apparatus of a variety of secretory cargos

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.