CYB5R3 Chromosome 22
Cytochrome b5 reductase 3
Upload your DNA to see your personal genotypes for variants in CYB5R3.
What This Gene Does
This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cytoplasmic side of the endoplasmic reticulum and functions in desaturation and elongation of fatty acids, in cholesterol biosynthesis, and in drug metabolism. The erythrocyte form is located in a soluble fraction of circulating erythrocytes and is involved in methemoglobin reduction. The membrane-bound form has both membrane-binding and catalytic domains, while the soluble form has only the catalytic domain. Alternate splicing results in multiple transcript variants. Mutations in this gene cause methemoglobinemias. [provided by RefSeq, Jan 2010]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
22q13.2
Ensembl
ENSG00000100243
Associated Conditions (9)
METHEMOGLOBINEMIA
TYPE I
Deficiency of cytochrome-b5 reductase
Inborn genetic diseases
TYPE II
Neurodevelopmental delay
CYB5R3-related disorder
Central core myopathy
Hereditary methemoglobinemia
Key Variants
RS121965018
Conflicting classifications of pathogenicity
METHEMOGLOBINEMIA, TYPE I, Deficiency of cytochrome-b5 reductase
Health Risk
RS144467449
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200872504
Conflicting classifications of pathogenicity
METHEMOGLOBINEMIA, TYPE II, Deficiency of cytochrome-b5 reductase
Health Risk
RS200877999
Conflicting classifications of pathogenicity
Deficiency of cytochrome-b5 reductase, Deficiency of cytochrome-b5 reductase
Health Risk
RS200909784
Conflicting classifications of pathogenicity
Health Risk
RS374075200
Conflicting classifications of pathogenicity
Health Risk
RS61745147
Conflicting classifications of pathogenicity
Deficiency of cytochrome-b5 reductase, Deficiency of cytochrome-b5 reductase
Health Risk
RS754251915
Conflicting classifications of pathogenicity
Deficiency of cytochrome-b5 reductase, Deficiency of cytochrome-b5 reductase
Health Risk
RS75478217
Conflicting classifications of pathogenicity
Deficiency of cytochrome-b5 reductase, Deficiency of cytochrome-b5 reductase
Health Risk
RS76458556
Conflicting classifications of pathogenicity
Neurodevelopmental delay, CYB5R3-related disorder, Neurodevelopmental delay
Health Risk
RS765970420
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS774242947
Conflicting classifications of pathogenicity
Deficiency of cytochrome-b5 reductase, Central core myopathy, Deficiency of cytochrome-b5 reductase
Health Risk
All Variants (41)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121965018 | Health Risk | Conflicting classifications of pathogenicity | METHEMOGLOBINEMIA, TYPE I, Deficiency of cytochrome-b5 reductase |
| RS144467449 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200872504 | Health Risk | Conflicting classifications of pathogenicity | METHEMOGLOBINEMIA, TYPE II, Deficiency of cytochrome-b5 reductase |
| RS200877999 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of cytochrome-b5 reductase, Deficiency of cytochrome-b5 reductase |
| RS200909784 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374075200 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS61745147 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of cytochrome-b5 reductase, Deficiency of cytochrome-b5 reductase |
| RS754251915 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of cytochrome-b5 reductase, Deficiency of cytochrome-b5 reductase |
| RS75478217 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of cytochrome-b5 reductase, Deficiency of cytochrome-b5 reductase |
| RS76458556 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental delay, CYB5R3-related disorder, Neurodevelopmental delay |
| RS765970420 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS774242947 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of cytochrome-b5 reductase, Central core myopathy, Deficiency of cytochrome-b5 reductase |
| RS1161477501 | Health Risk | Likely pathogenic | Deficiency of cytochrome-b5 reductase, Deficiency of cytochrome-b5 reductase |
| RS121965007 | Health Risk | Likely pathogenic | METHEMOGLOBINEMIA, TYPE I, CYB5R3-related disorder |
| RS121965017 | Health Risk | Likely pathogenic | METHEMOGLOBINEMIA, TYPE I, Deficiency of cytochrome-b5 reductase |
| RS1454054574 | Health Risk | Likely pathogenic | Deficiency of cytochrome-b5 reductase, Deficiency of cytochrome-b5 reductase |
| RS1928355433 | Health Risk | Likely pathogenic | — |
| RS530251354 | Health Risk | Likely pathogenic | — |
| RS750819571 | Health Risk | Likely pathogenic | Deficiency of cytochrome-b5 reductase, Deficiency of cytochrome-b5 reductase |
| RS1210302322 | Health Risk | Pathogenic | Deficiency of cytochrome-b5 reductase, Deficiency of cytochrome-b5 reductase |
| RS121965006 | Health Risk | Pathogenic | METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA |
| RS121965008 | Health Risk | Pathogenic | METHEMOGLOBINEMIA, TYPE I, METHEMOGLOBINEMIA |
| RS121965010 | Health Risk | Pathogenic | METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA |
| RS121965011 | Health Risk | Pathogenic | METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA |
| RS121965012 | Health Risk | Pathogenic | METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA |
| RS121965014 | Health Risk | Pathogenic | METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA |
| RS121965015 | Health Risk | Pathogenic | METHEMOGLOBINEMIA, TYPE I, Hereditary methemoglobinemia |
| RS1223829978 | Health Risk | Pathogenic | Deficiency of cytochrome-b5 reductase, Deficiency of cytochrome-b5 reductase |
| RS1312414434 | Health Risk | Pathogenic | — |
| RS1601938489 | Health Risk | Pathogenic | Deficiency of cytochrome-b5 reductase, Deficiency of cytochrome-b5 reductase |
| RS1601943088 | Health Risk | Pathogenic | METHEMOGLOBINEMIA, TYPE I, METHEMOGLOBINEMIA |
| RS1928115765 | Health Risk | Pathogenic | — |
| RS61732609 | Health Risk | Pathogenic | METHEMOGLOBINEMIA, TYPE II, Deficiency of cytochrome-b5 reductase |
| RS763259379 | Health Risk | Pathogenic | Deficiency of cytochrome-b5 reductase, Deficiency of cytochrome-b5 reductase |
| RS777361441 | Health Risk | Pathogenic | METHEMOGLOBINEMIA, TYPE I, METHEMOGLOBINEMIA |
| RS794728011 | Health Risk | Pathogenic | METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA |
| RS794728012 | Health Risk | Pathogenic | METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA |
| RS121965016 | Health Risk | Pathogenic/Likely pathogenic | METHEMOGLOBINEMIA, TYPE I, Deficiency of cytochrome-b5 reductase |
| RS144071404 | Health Risk | Pathogenic/Likely pathogenic | Hereditary methemoglobinemia, Deficiency of cytochrome-b5 reductase, Central core myopathy |
| RS543277216 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of cytochrome-b5 reductase, CYB5R3-related disorder, Deficiency of cytochrome-b5 reductase |
| RS794728013 | Health Risk | Pathogenic/Likely pathogenic | METHEMOGLOBINEMIA, TYPE II, Deficiency of cytochrome-b5 reductase |