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MSRB3

Chr 12q14.3

methionine sulfoxide reductase B3

Aliases:
FLJ36866, DKFZp686C1178
MANE:
ENST00000308259.10

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Monogenic hearing loss

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hearing loss, autosomal recessive

    0.65
  • deafness

    0.50
  • atrial fibrillation

    0.40
  • sleep apnea syndrome

    0.40
  • Snoring

    0.40
  • Non-syndromic genetic deafness

    0.38
  • hearing loss disorder

    0.37
  • nonsyndromic genetic hearing loss

    0.37
  • obstructive sleep apnea syndrome

    0.36
  • odontogenesis

    0.36

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Methionine-R-sulfoxide reductase B3

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

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.