MSRB2

Chr 10

methionine sulfoxide reductase B2

Also known as: CBS-1, CBS1, CGI-131, MSRB, PILB

NCBI Gene: 22921 ENSG00000148450 UniProt: Q9Y3D2

The MSRB2 protein is a mitochondrial methionine-sulfoxide reductase that reduces oxidized methionine residues back to methionine and helps preserve mitochondrial integrity during oxidative stress. Mutations cause autosomal recessive sensorineural hearing loss, which can be congenital or early-onset and may be associated with mitochondrial dysfunction. This gene primarily affects the auditory system, though the mitochondrial localization suggests potential for broader cellular effects.

ResearchSummary from RefSeq, UniProt

Predicted to enable actin binding activity; peptide-methionine (R)-S-oxide reductase activity; and zinc ion binding activity. Predicted to be involved in actin filament polymerization and protein repair. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.56

LOEUF

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Mechanism

Some data sources returned errors (1)