Methionine Sulfoxide Reductase B3 (MSRB3) Human Recombinant Protein

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]

MSRB3: Catalyzes the reduction of free and protein-bound methionine sulfoxide to methionine. Isoform 2 is essential for hearing. Defects in MSRB3 are the cause of deafness autosomal recessive type 74 (DFNB74). 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. A nonsense mutation affecting exclusively mitochondrial isoform 2 is sufficient to produce hearing loss. Belongs to the MsrB Met sulfoxide reductase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Mitochondrial; EC 1.8.4.-; Oxidoreductase; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 12q14.3

Cellular Component: mitochondrion; endoplasmic reticulum

Molecular Function: zinc ion binding; peptide-methionine (R)-S-oxide reductase activity

Biological Process: protein repair; response to oxidative stress

Disease: Deafness, Autosomal Recessive 74