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Novel mutations in GRXCR1 at DFNB25 leading to progressive hearing loss are identified in a Japanese family.
Quantitative analysis of GRXCR1 transcripts in fetal and adult human tissues revealed a preferential expression of the gene in fetal cochlea, which may explain the nonsyndromic nature of the hearing impairment.
Deafness in pirouette mutants is associated with loss of GRXCR1 function in modulating actin cytoskeletal architecture in the developing stereocilia of sensory hair cells.
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.
glutaredoxin domain-containing cysteine-rich protein 1
, glutaredoxin cysteine-rich 1 protein