MSRB3 Chromosome 12
Methionine sulfoxide reductase B3
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What This Gene Does
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]
Associated Conditions (6)
Autosomal recessive nonsyndromic hearing loss 74
Papillary renal cell carcinoma type 1
Inborn genetic diseases
Rare genetic deafness
Hearing loss
autosomal recessive
Key Variants
RS144038296
Conflicting classifications of pathogenicity
Health Risk
RS145704693
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 74, Papillary renal cell carcinoma type 1, Autosomal recessive nonsyndromic hearing loss 74
Health Risk
RS199896714
Conflicting classifications of pathogenicity
Health Risk
RS200201418
Conflicting classifications of pathogenicity
Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 74, Inborn genetic diseases
Health Risk
RS368104588
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS574256598
Conflicting classifications of pathogenicity
Health Risk
RS949229098
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 74, Autosomal recessive nonsyndromic hearing loss 74
Health Risk
RS1313627984
Likely pathogenic
Health Risk
RS201306709
Likely pathogenic
Rare genetic deafness, Hearing loss, Rare genetic deafness
Health Risk
RS2136722469
Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 74, Autosomal recessive nonsyndromic hearing loss 74
Health Risk
RS774879831
Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 74, Autosomal recessive nonsyndromic hearing loss 74
Health Risk
RS149258390
Pathogenic
Autosomal recessive nonsyndromic hearing loss 74, Autosomal recessive nonsyndromic hearing loss 74
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144038296 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145704693 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 74, Papillary renal cell carcinoma type 1, Autosomal recessive nonsyndromic hearing loss 74 |
| RS199896714 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200201418 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 74, Inborn genetic diseases |
| RS368104588 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS574256598 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS949229098 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 74, Autosomal recessive nonsyndromic hearing loss 74 |
| RS1313627984 | Health Risk | Likely pathogenic | — |
| RS201306709 | Health Risk | Likely pathogenic | Rare genetic deafness, Hearing loss, Rare genetic deafness |
| RS2136722469 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 74, Autosomal recessive nonsyndromic hearing loss 74 |
| RS774879831 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 74, Autosomal recessive nonsyndromic hearing loss 74 |
| RS149258390 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 74, Autosomal recessive nonsyndromic hearing loss 74 |
| RS387907088 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 74, Hearing loss, autosomal recessive |
| RS751906778 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 74, Autosomal recessive nonsyndromic hearing loss 74 |