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NDRG1

Chr 8q24.22

N-myc downstream regulated 1

Aliases:
DRG1, RTP, TDD5, NDR1
MANE:
ENST00000323851.13

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Hereditary neuropathy

    BIALLELIC, autosomal or pseudoautosomal
  • Hereditary neuropathy or pain disorder

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • Charcot-Marie-Tooth disease type 4D

    0.74
  • Charcot-Marie-Tooth disease type 4

    0.55
  • hereditary disease

    0.45
  • Charcot-Marie-Tooth disease

    0.43
  • lung carcinoma

    0.39
  • gastric carcinoma

    0.37
  • prostate adenocarcinoma

    0.37
  • colorectal adenocarcinoma

    0.37
  • bile duct carcinoma

    0.37
  • lymphoid neoplasm

    0.37

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

Protein function (UniProt)

Protein NDRG1

Stress-responsive protein involved in hormone responses, cell growth, and differentiation. Acts as a tumor suppressor in many cell types. Necessary but not sufficient for p53/TP53-mediated caspase activation and apoptosis. Has a role in cell trafficking, notably of the Schwann cell, and is necessary for the maintenance and development of the peripheral nerve myelin sheath. Required for vesicular recycling of CDH1 and TF. May also function in lipid trafficking. Protects cells from spindle disruption damage. Functions in p53/TP53-dependent mitotic spindle checkpoint. Regulates microtubule dynamics and maintains euploidy

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.