GRXCR1
Glutaredoxin Cysteine Rich 1
Gene Information Card
| Symbol | GRXCR1 |
|---|---|
| Full Name | Glutaredoxin Cysteine Rich 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p13 |
| NCBI Gene ID | 389207 ncbi.nlm.nih.gov/gene/389207 |
| Ensembl ID | ENSG00000164175 |
| UniProt ID | Q6PJN4 |
| OMIM ID | 613283 |
| HGNC ID | 26525 |
| Aliases | DFNB25, C4orf16 |
Description
GRXCR1 encodes a glutaredoxin-like protein that is essential for the development and maintenance of stereocilia in inner ear hair cells. It is involved in actin cytoskeleton organization and auditory function. Mutations in GRXCR1 cause autosomal recessive non-syndromic hearing loss (DFNB25).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive deafness 25 (DFNB25) | Loss-of-function mutations disrupt stereocilia development and auditory transduction | OMIM #613283; ClinVar pathogenic variants |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cochlea | N/A | High (inner ear hair cells) |
| Testis | N/A | Moderate |
| Kidney | N/A | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | N/A | Not endogenously expressed |
| Inner ear hair cell lines | N/A | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.143T>C (p.Leu48Pro) | Missense | Rare | Loss of function; associated with DFNB25 |
| c.358C>T (p.Arg120*) | Nonsense | Rare | Premature stop; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations are loss-of-function, leading to DFNB25 hearing loss.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Stereocilia development and maintenance
• Auditory transduction
Protein Summary
GRXCR1 is a 220-amino acid protein containing a glutaredoxin-like domain. It localizes to the stereocilia of inner ear hair cells and interacts with actin filaments to maintain stereocilia structure. Loss of function leads to progressive hearing loss.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GRXCR1 Knockout HEK293 Cell Line | EDJ-KQ13688 | Human | 389207 | Details Get a Quote |
| GRXCR1 Knockout HeLa Cell Line | EDJ-KQ60076 | Human | 389207 | Details Get a Quote |
| GRXCR1 Knockout A-549 Cell Line | EDJ-KQ68538 | Human | 389207 | Details Get a Quote |
| GRXCR1 Knockout HCT 116 Cell Line | EDJ-KQ76913 | Human | 389207 | Details Get a Quote |
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