MTR Chromosome 1
5-methyltetrahydrofolate-homocysteine methyltransferase
Upload your DNA to see your personal genotypes for variants in MTR.
What This Gene Does
This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
Gene Info
Gene Group
"Homocysteine domain containing methyltransferases|Small molecule methyltransferases"
Locus Type
gene with protein product
Location
1q43
Ensembl
ENSG00000116984
Associated Conditions (17)
Disorders of Intracellular Cobalamin Metabolism
Methylcobalamin deficiency type cblG
MTR-related disorder
Neural tube defects
folate-sensitive
Intellectual disability
Gastric cancer
Malignant tumor of esophagus
Familial cancer of breast
Inborn genetic diseases
See cases
Homocystinuria
Decreased methionine synthase activity
Melanoma
Thymoma
Profound intellectual disability
Epilepsy
Key Variants
RS116836001
Conflicting classifications of pathogenicity
Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, MTR-related disorder
Health Risk
RS121913582
Conflicting classifications of pathogenicity
Methylcobalamin deficiency type cblG, Neural tube defects, folate-sensitive
Health Risk
RS1242741686
Conflicting classifications of pathogenicity
Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
Health Risk
RS12749581
Conflicting classifications of pathogenicity
Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism, Intellectual disability
Health Risk
RS1413989228
Conflicting classifications of pathogenicity
Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
Health Risk
RS141861479
Conflicting classifications of pathogenicity
Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG
Health Risk
RS141919148
Conflicting classifications of pathogenicity
Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG
Health Risk
RS142648132
Conflicting classifications of pathogenicity
Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, MTR-related disorder
Health Risk
RS142857114
Conflicting classifications of pathogenicity
Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism
Health Risk
RS144767461
Conflicting classifications of pathogenicity
Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, MTR-related disorder
Health Risk
RS144777709
Conflicting classifications of pathogenicity
Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG, MTR-related disorder
Health Risk
RS144991102
Conflicting classifications of pathogenicity
Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism, Inborn genetic diseases
Health Risk
All Variants (125)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2528435985 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG |
| RS2528436006 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG |
| RS2528522105 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG |
| RS2528537363 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG |
| RS2528537380 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG |
| RS536238004 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG |
| RS752220849 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG |
| RS752526782 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG |
| RS757963570 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG |
| RS762727293 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG |
| RS763288919 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG |
| RS767201867 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG |
| RS768968736 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG |
| RS776216297 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG |
| RS777459947 | Health Risk | Pathogenic | — |
| RS778563154 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG |
| RS781320871 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG |
| RS794727395 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG |
| RS797044444 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG |
| RS797044445 | Health Risk | Pathogenic | Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG |
| RS121913580 | Health Risk | Pathogenic/Likely pathogenic | Methylcobalamin deficiency type cblG, Neural tube defects, folate-sensitive |
| RS1324468065 | Health Risk | Pathogenic/Likely pathogenic | Methylcobalamin deficiency type cblG, Intellectual disability, Methylcobalamin deficiency type cblG |
| RS138695265 | Health Risk | Pathogenic/Likely pathogenic | Methylcobalamin deficiency type cblG, Neural tube defects, folate-sensitive |
| RS1661117141 | Health Risk | Pathogenic/Likely pathogenic | Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG |
| RS772951826 | Health Risk | Pathogenic/Likely pathogenic | Methylcobalamin deficiency type cblG, Neural tube defects, folate-sensitive |