Gene: MSRB3

Alternate names for this Gene: DFNB74

Gene 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q14.3

Description of this Gene: methionine sulfoxide reductase B3

Type of Gene: protein-coding

rs6581627 in MSRB3 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs387907088 in MSRB3 gene and DEAFNESS, AUTOSOMAL RECESSIVE 74 PMID 21185009 2011 Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.

rs12825748 in MSRB3 gene and Forced expiratory volume function PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

PMID 28166213 2017 Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.

rs12825748 in MSRB3 gene and Vital capacity PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs12825748 in MSRB3 gene and peak expiratory flow (procedure) PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs182408739 in MSRB3 gene and response to bronchodilator PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.