MSRB3

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.

Full Name

METHIONINE SULFOXIDE REDUCTASE B3

Function

Catalyzes the reduction of free and protein-bound methionine sulfoxide to methionine. Isoform 2 is essential for hearing.

Biological Process

Protein repair Source: HGNC-UCL
Response to oxidative stress Source: InterPro

Cellular Location

Isoform 1:
Endoplasmic reticulum
Isoform 2:
Mitochondrion

Involvement in disease

Deafness, autosomal recessive, 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.