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NRDC

Chr 1p32.3

nardilysin convertase

Aliases:
hNRD1, hNRD2
MANE:
ENST00000352171.12

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Arthrogryposis

    BIALLELIC, autosomal or pseudoautosomal
  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Optic neuropathy

    BIALLELIC, autosomal or pseudoautosomal
  • Severe microcephaly

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • major depressive disorder

    0.44
  • obesity disorder

    0.28
  • attention deficit-hyperactivity disorder

    0.28
  • major depressive episode

    0.28
  • neurodevelopmental disorder

    0.27
  • placental abruption

    0.24
  • microcephaly

    0.23
  • optic nerve disorder

    0.23
  • Optic neuropathy

    0.23
  • complex neurodevelopmental disorder

    0.18

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

Protein function (UniProt)

Nardilysin

Cleaves peptide substrates on the N-terminus of arginine residues in dibasic pairs. Is a critical activator of BACE1- and ADAM17-mediated pro-neuregulin ectodomain shedding, involved in the positive regulation of axonal maturation and myelination. Required for proper functioning of 2-oxoglutarate dehydrogenase (OGDH) (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.