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ADAMTS15

Chr 11q24.3

ADAM metallopeptidase with thrombospondin type 1 motif 15

MANE:
ENST00000299164.4

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Arthrogryposis

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • arthrogryposis, distal, type 12

    0.67
  • neurodegenerative disease

    0.32
  • distal arthrogryposis

    0.19
  • idiopathic pulmonary fibrosis

    0.13
  • liver disorder

    0.12
  • biliary tract disorder

    0.11
  • tooth disorder

    0.11
  • exostosis

    0.11
  • cellulitis

    0.11
  • abscess

    0.11

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 15

Metalloprotease which has proteolytic activity against the proteoglycan VCAN, cleaving it at the 'Glu-1428-|-1429-Ala' site. Cleaves VCAN in the pericellular matrix surrounding myoblasts, facilitating myoblast contact and fusion which is required for skeletal muscle development and regeneration

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.