GRXCR1

Chr 4AR

glutaredoxin and cysteine rich domain containing 1

Also known as: DFNB25, PPP1R88

NCBI Gene: 389207 ENSG00000215203 UniProt: A8MXD5 OMIM: 613283

The protein contains GRX-like domains involved in S-glutathionylation and functions in actin filament architecture in developing stereocilia of sensory hair cells. Mutations cause autosomal recessive nonsyndromic hearing loss. This gene shows very high constraint against loss-of-function variants (pLI ~0), indicating that haploinsufficiency is likely not tolerated in the general population.

OMIM ResearchSummary from RefSeq, UniProt

This gene is one of 60 loci associated with autosomal-recessive nonsyndromic hearing impairment. This gene encodes a protein which contains GRX-like domains; these domains play a role in the S-glutathionylation of proteins and may be involved in actin organization in hair cells. [provided by RefSeq, Sep 2010]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Deafness, autosomal recessive 25MIM #613285

Clinical highlights

Gene-disease validity (ClinGen)

nonsyndromic genetic hearing loss · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.70

LOEUF

LOF

Mechanism· G2P