The protein encoded by this gene catalyzes the reduction of methionine sulfoxide to methionine. This enzyme acts as a monomer and requires zinc as a cofactor. Several transcript variants encoding two different isoforms have been found for this gene. One of the isoforms localizes to mitochondria while the other localizes to endoplasmic reticula. [provided by RefSeq, Jul 2010]
Function:
Catalyzes the reduction of free and protein-bound methionine sulfoxide to methionine. Isoform 2 is essential for hearing.
Subcellular Location:
Mitochondrion and Endoplasmic reticulum.
Tissue Specificity:
Widely expressed.
DISEASE:
Deafness, autosomal recessive, 74 (DFNB74) [MIM:613718]: A form of non-syndromic sensorineural deafness characterized by prelingual, bilateral, profound hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations affecting the gene represented in this entry. A nonsense mutation affecting exclusively mitochondrial isoform 2 is sufficient to produce hearing loss.
Similarity:
Belongs to the MsrB Met sulfoxide reductase family.
SWISS:
Q8IXL7
Gene ID:
253827
Database links:
Entrez Gene: 253827 Human
Entrez Gene: 64183 Mouse
Entrez Gene: 136036 Rat
Omim: 613719 Human
SwissProt: Q8IXL7 Human
SwissProt: Q8BU85 Mouse
Unigene: 339024 Human
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