MTRR Chromosome 5
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
Upload your DNA to see your personal genotypes for variants in MTRR.
What This Gene Does
This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-group transfer by a folate donor, activity of the encoded enzyme is important for folate metabolism and cellular methylation. Mutations in this gene can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
5p15.31
Ensembl
ENSG00000124275
Associated Conditions (9)
Methylcobalamin deficiency type cblE
Disorders of Intracellular Cobalamin Metabolism
MTRR-related disorder
Neural tube defects
folate-sensitive
Methylcobalamin deficiency type cblG
Inborn genetic diseases
Colon adenocarcinoma
Homocystinuria without methylmalonic aciduria
Key Variants
RS114748706
Conflicting classifications of pathogenicity
Methylcobalamin deficiency type cblE, Disorders of Intracellular Cobalamin Metabolism, MTRR-related disorder
Health Risk
RS12347
Conflicting classifications of pathogenicity
Methylcobalamin deficiency type cblE, Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblE
Health Risk
RS1254913477
Conflicting classifications of pathogenicity
Methylcobalamin deficiency type cblE, Neural tube defects, folate-sensitive
Health Risk
RS140944718
Conflicting classifications of pathogenicity
Methylcobalamin deficiency type cblE, Inborn genetic diseases, Methylcobalamin deficiency type cblE
Health Risk
RS142714881
Conflicting classifications of pathogenicity
Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
Health Risk
RS143418731
Conflicting classifications of pathogenicity
Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblE, Disorders of Intracellular Cobalamin Metabolism
Health Risk
RS144899305
Conflicting classifications of pathogenicity
Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblE, Inborn genetic diseases
Health Risk
RS148909799
Conflicting classifications of pathogenicity
Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblE, MTRR-related disorder
Health Risk
RS149037732
Conflicting classifications of pathogenicity
Methylcobalamin deficiency type cblE, Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblE
Health Risk
RS149300444
Conflicting classifications of pathogenicity
Methylcobalamin deficiency type cblE, Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblE
Health Risk
RS149678769
Conflicting classifications of pathogenicity
Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblE, Inborn genetic diseases
Health Risk
RS150411351
Conflicting classifications of pathogenicity
Methylcobalamin deficiency type cblE, Neural tube defects, folate-sensitive
Health Risk
All Variants (139)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2478890930 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS2478892105 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS2478942250 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS2478942663 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS2478943007 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS2479023142 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS2479073064 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS2479100396 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS2479101644 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS2479102700 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS2479147977 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS2479148171 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS375908206 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblE, Neural tube defects, folate-sensitive |
| RS754990692 | Health Risk | Pathogenic | Homocystinuria without methylmalonic aciduria, Methylcobalamin deficiency type cblE, Neural tube defects |
| RS757800887 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS768980918 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblE, Inborn genetic diseases, Neural tube defects |
| RS771216289 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS867974337 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS893229476 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblE, Disorders of Intracellular Cobalamin Metabolism, Neural tube defects |
| RS919772858 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE |
| RS1293600145 | Health Risk | Pathogenic/Likely pathogenic | Methylcobalamin deficiency type cblE, Neural tube defects, folate-sensitive |
| RS1353165398 | Health Risk | Pathogenic/Likely pathogenic | Methylcobalamin deficiency type cblE, Neural tube defects, folate-sensitive |
| RS137853061 | Health Risk | Pathogenic/Likely pathogenic | Methylcobalamin deficiency type cblE, Inborn genetic diseases, Neural tube defects |
| RS137853062 | Health Risk | Pathogenic/Likely pathogenic | Methylcobalamin deficiency type cblE, Disorders of Intracellular Cobalamin Metabolism, Neural tube defects |
| RS147960130 | Health Risk | Pathogenic/Likely pathogenic | Methylcobalamin deficiency type cblE, Neural tube defects, folate-sensitive |
| RS1579619636 | Health Risk | Pathogenic/Likely pathogenic | Methylcobalamin deficiency type cblE, Neural tube defects, folate-sensitive |
| RS1734931275 | Health Risk | Pathogenic/Likely pathogenic | Methylcobalamin deficiency type cblE, Neural tube defects, folate-sensitive |
| RS1737818730 | Health Risk | Pathogenic/Likely pathogenic | Methylcobalamin deficiency type cblE, Neural tube defects, folate-sensitive |
| RS2126675707 | Health Risk | Pathogenic/Likely pathogenic | Methylcobalamin deficiency type cblE, MTRR-related disorder, Methylcobalamin deficiency type cblE |
| RS2479100979 | Health Risk | Pathogenic/Likely pathogenic | Methylcobalamin deficiency type cblE, Neural tube defects, folate-sensitive |
| RS2479102741 | Health Risk | Pathogenic/Likely pathogenic | Methylcobalamin deficiency type cblE, Neural tube defects, folate-sensitive |
| RS752858024 | Health Risk | Pathogenic/Likely pathogenic | Methylcobalamin deficiency type cblE, Neural tube defects, folate-sensitive |
| RS754619743 | Health Risk | Pathogenic/Likely pathogenic | Methylcobalamin deficiency type cblE, Neural tube defects, folate-sensitive |
| RS761061866 | Health Risk | Pathogenic/Likely pathogenic | Methylcobalamin deficiency type cblE, Neural tube defects, folate-sensitive |
| RS767124472 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Neural tube defects, folate-sensitive |
| RS767610650 | Health Risk | Pathogenic/Likely pathogenic | Neural tube defects, folate-sensitive, Methylcobalamin deficiency type cblE |
| RS772547714 | Health Risk | Pathogenic/Likely pathogenic | Methylcobalamin deficiency type cblE, Neural tube defects, folate-sensitive |
| RS777997657 | Health Risk | Pathogenic/Likely pathogenic | Methylcobalamin deficiency type cblE, Neural tube defects, folate-sensitive |
| RS778738842 | Health Risk | Pathogenic/Likely pathogenic | Methylcobalamin deficiency type cblE, Neural tube defects, folate-sensitive |