| Tbio | Methionine synthase reductase |
Involved in the reductive regeneration of cob(I)alamin (vitamin B12) cofactor required for the maintenance of methionine synthase in a functional state. Necessary for utilization of methylgroups from the folate cycle, thereby affecting transgenerational epigenetic inheritance. Folate pathway donates methyl groups necessary for cellular methylation and affects different pathways such as DNA methylation, possibly explaining the transgenerational epigenetic inheritance effects.
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]
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]
Comments
Property Summary
| NCBI Gene PubMed Count | 305 |
| Grant Count | 86 |
| R01 Count | 71 |
| Funding | $9,291,761.09 |
| PubMed Score | 259.13 |
| PubTator Score | 385.47 |
| Disease | log2 FC | p |
|---|---|---|
| malignant mesothelioma | 1.700 | 0.000 |
| osteosarcoma | 1.824 | 0.000 |
| lung cancer | -2.200 | 0.000 |
| colon cancer | 1.100 | 0.014 |
| ovarian cancer | -1.400 | 0.000 |
| PMID | Text |
|---|---|
| 26345779 | We aimed to explore the correlation between unexplained recurrent spontaneous abortion and polymorphisms in the methylene tetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) genes. |
| 26337056 | Low folate status and homocysteine metabolism gene polymorphisms (MTHFR C677T, MTHFR A1298C, MTR A2756G and MTRR A66G) may have a synergistic effect towards increasing the incidence of dyslipidemia in Chinese hypertensive population. |
| 26334892 | Methionine synthase (MTR) and methionine synthase reductase (MTRR) polymorphisms were significantly associated with the increased neural tube defects risk in a Chinese population. |
| 26316272 | an association between MTRR 66 and SHMT1 1420 polymorphisms and spaceflight-induced vision changes |
| 26266420 | interactions among homocysteine metabolism gene polymorphisms in MTHFR, MTR and MTRR lead to dramatic elevations in the folate deficiency risk |
| 26252105 | MSR 524C/T polymorphism is associated with essential hypertension in ethnic groups in China. |
| 26214647 | Review/Meta-analysis: suggest an association between MTRR A66G polymorphism and colorectal cancer susceptibility among Caucasians. |
| 26196053 | no association of rs1801394 with non-obstructive azoospermia |
| 26154858 | polymorphisms of the MTHFR, MTRR, and MTR enzymes are well documented as folate deficiency-related disorders. The aim of this study was to compare the genotypic distribution of these gene polymorphisms between patients with acromegaly and controls. |
| 26090795 | Variation in MTHFR, MTR, and MTRR were significantly associated with percent LINE-1 methylation.DNA methylation of LINE-1 elements in histologically normal breast tissues is influenced by polymorphisms in genes in the one-carbon metabolism pathway |
| More... |
MGAASVRAGARLVEVALCSFTVTCLEVMRRFLLLYATQQGQAKAIAEEICEQAVVHGFSADLHCISESDK 1 - 70 YDLKTETAPLVVVVSTTGTGDPPDTARKFVKEIQNQTLPVDFFAHLRYGLLGLGDSEYTYFCNGGKIIDK 71 - 140 RLQELGARHFYDTGHADDCVGLELVVEPWIAGLWPALRKHFRSSRGQEEISGALPVASPASSRTDLVKSE 141 - 210 LLHIESQVELLRFDDSGRKDSEVLKQNAVNSNQSNVVIEDFESSLTRSVPPLSQASLNIPGLPPEYLQVH 211 - 280 LQESLGQEESQVSVTSADPVFQVPISKAVQLTTNDAIKTTLLVELDISNTDFSYQPGDAFSVICPNSDSE 281 - 350 VQSLLQRLQLEDKREHCVLLKIKADTKKKGATLPQHIPAGCSLQFIFTWCLEIRAIPKKAFLRALVDYTS 351 - 420 DSAEKRRLQELCSKQGAADYSRFVRDACACLLDLLLAFPSCQPPLSLLLEHLPKLQPRPYSCASSSLFHP 421 - 490 GKLHFVFNIVEFLSTATTEVLRKGVCTGWLALLVASVLQPNIHASHEDSGKALAPKISISPRTTNSFHLP 491 - 560 DDPSIPIIMVGPGTGIAPFIGFLQHREKLQEQHPDGNFGAMWLFFGCRHKDRDYLFRKELRHFLKHGILT 561 - 630 HLKVSFSRDAPVGEEEAPAKYVQDNIQLHGQQVARILLQENGHIYVCGDAKNMAKDVHDALVQIISKEVG 631 - 700 VEKLEAMKTLATLKEEKRYLQDIWS 701 - 725 //
| PMID | Year | Title |
|---|---|---|
| 26345779 | 2015 | Polymorphisms in the methylene tetrahydrofolate reductase and methionine synthase reductase genes and their correlation with unexplained recurrent spontaneous abortion susceptibility. |
| 26337056 | 2015 | Joint associations of folate, homocysteine and MTHFR, MTR and MTRR gene polymorphisms with dyslipidemia in a Chinese hypertensive population: a cross-sectional study. |
| 26334892 | 2015 | Analysis of MTR and MTRR Polymorphisms for Neural Tube Defects Risk Association. |
| 26316272 | 2016 | Genotype, B-vitamin status, and androgens affect spaceflight-induced ophthalmic changes. |
| 26266420 | 2015 | Homocysteine Metabolism Gene Polymorphisms (MTHFR C677T, MTHFR A1298C, MTR A2756G and MTRR A66G) Jointly Elevate the Risk of Folate Deficiency. |
| 26252105 | 2015 | [Association of plasma homocysteine level and polymorphism of methione synthase reductase gene with essential hypertension in ethnic Uyghurs and Hans from Xinjiang]. |
| 26214647 | A meta-analysis of MTRR A66G polymorphism and colorectal cancer susceptibility. | |
| 26196053 | 2015 | Association between genetic polymorphisms in folate-related enzyme genes and infertile men with non-obstructive azoospermia. |
| 26154858 | 2015 | An Association Study Between Gene Polymorphisms of Folic Acid Metabolism Enzymes and Biochemical and Hormonal Parameters in Acromegaly. |
| 26090795 | 2015 | Associations between genetic variation in one-carbon metabolism and LINE-1 DNA methylation in histologically normal breast tissues. |
| More... |
