MSRB3 gene

methionine sulfoxide reductase B3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, autosomal recessive 74

From UniProt:

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. [MIM:613718]

Cytogenetic Location: 12q14.3, which is the long (q) arm of chromosome 12 at position 14.3

Molecular Location: base pairs 65,278,643 to 65,466,907 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q14.3, which is the long (q) arm of chromosome 12 at position 14.3
  • DFNB74