GRXCR1


Description

The GRXCR1 (glutaredoxin and cysteine rich domain containing 1) is a protein-coding gene located on chromosome 4.

GRXCR1 (Glutaredoxin domain-containing cysteine-rich protein 1) is a human gene associated with autosomal-recessive nonsyndromic hearing impairment. It encodes a protein containing GRX-like domains, which are implicated in the S-glutathionylation of proteins. These domains may contribute to actin organization within hair cells, potentially impacting their function. Studies in a mutant mouse model (Grxcr1tde) lacking GRXCR1 have revealed significant abnormalities, including decreased body weight, grip strength, and body length, along with impaired hearing. These observations support a role for GRXCR1 in maintaining normal auditory function.

GRXCR1 is also known as DFNB25, PPP1R88.

Associated Diseases


Disclaimer

The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.