rs387907088

This is a variant in the MSRB3 gene that changes a cysteine to an glycine.

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ClinVar annotation

Pathogenic★☆☆☆
3 submitters4 publications

Autosomal recessive nonsyndromic hearing loss 74; Hearing loss, autosomal recessive

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About 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. [provided by RefSeq, Jul 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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