GRXCR1 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
GRXCR1
Official Name
glutaredoxin and cysteine rich domain containing 1 [Source:HGNC Symbol;Acc:HGNC:31673]
Ensembl ID
ENSG00000215203
Bio databases IDs NCBI: 389207 Ensembl: ENSG00000215203
Aliases glutaredoxin and cysteine rich domain containing 1, protein phosphatase 1, regulatory subunit 88
Synonyms DFNB25, glutaredoxin and cysteine rich domain containing 1, glutaredoxin, cysteine rich 1, LOC100910415, pi, PPP1R88, RGD1564635, tde, Tg(Eno2-Gabrb3)0370Brll
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GRXCR1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • COVID-19
  • autosomal recessive deafness type 25
  • hearing loss
  • familial nonsyndromic hearing impairment
  • autosomal recessive deafness
regulates
role in cell
  • differentiation
  • morphogenesis
  • organization
  • exocytosis by

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • kinocilia
  • cytosol
  • stereocilia

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human GRXCR1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • sensory perception of sound
  • inner ear receptor stereocilium organization
  • auditory receptor cell differentiation
  • cochlea development
  • vestibular receptor cell development
  • inner ear receptor cell development

Cellular Component

Where in the cell the gene product is active
  • microvillus
  • kinocilium
  • stereocilium

Molecular Function

What the gene product does at the molecular level
  • protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.