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


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