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GenoLensGenoLens

NXN

Chr 17p13.3

nucleoredoxin

Aliases:
FLJ12614, NRX
MANE:
ENST00000336868.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal
  • Limb disorders

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • robinow syndrome, autosomal recessive 2

    0.61
  • Robinow syndrome

    0.60
  • autosomal recessive Robinow syndrome

    0.38
  • colorectal cancer

    0.37
  • polyp of colon

    0.33
  • benign colon neoplasm

    0.30
  • vertebral column disorder

    0.28
  • inflammatory bowel disease

    0.28
  • spinal cord injury

    0.28
  • benign neoplasm of pituitary gland

    0.27

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

Protein function (UniProt)

Nucleoredoxin

Functions as a redox-dependent negative regulator of the Wnt signaling pathway, possibly by preventing ubiquitination of DVL3 by the BCR(KLHL12) complex. May also function as a transcriptional regulator act as a regulator of protein phosphatase 2A (PP2A) (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.