Gene Symbol | MSRB3 |
Entrez Gene ID | 253827 |
Full Name | methionine sulfoxide reductase B3 |
Synonyms | DFNB74 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Deafness, autosomal recessive 74, 613718 (3) |