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GRXCR1

Chr 4p13

glutaredoxin and cysteine rich domain containing 1

Aliases:
PPP1R88
MANE:
ENST00000399770.3

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Monogenic hearing loss

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hearing loss, autosomal recessive

    0.71
  • deafness

    0.57
  • Rare genetic deafness

    0.42
  • Non-syndromic genetic deafness

    0.39
  • hearing loss disorder

    0.37
  • nonsyndromic genetic hearing loss

    0.37
  • alopecia areata

    0.34
  • malignant renal pelvis neoplasm

    0.32
  • cardiomyopathy

    0.29
  • Hearing impairment

    0.27

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

Protein function (UniProt)

Glutaredoxin domain-containing cysteine-rich protein 1

May play a role in actin filament architecture in developing stereocilia of sensory cells

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.