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Mouse Anti-MTHFR (AA 1-74) Recombinant Antibody (CBFYM-2739) (CBMAB-M2932-FY)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
CBFYM-2739
Antibody Isotype
IgG1, k
Application
ELISA, WB

Basic Information

Immunogen
Full length recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Specificity
Human
Antibody Isotype
IgG1, k
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.
Epitope
AA 1-74

Target

Full Name
Methylenetetrahydrofolate Reductase
Introduction
The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.
Entrez Gene ID
4524
UniProt ID
P42898
Alternative Names
Methylenetetrahydrofolate Reductase; EC 1.5.1.20; 5,10-Methylenetetrahydrofolate Reductase (NADPH); Methylenetetrahydrofolate Reductase (NAD(P)H)
Function
Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine (PubMed:29891918).

Represents a key regulatory connection between the folate and methionine cycles (Probable).
Biological Process
Heterochromatin organization Source: BHF-UCL
Homocysteine metabolic process Source: UniProtKB
Methionine biosynthetic process Source: GO_Central
Methionine metabolic process Source: BHF-UCL
Neural tube closure Source: BHF-UCL
Regulation of histone methylation Source: BHF-UCL
Response to amino acid Source: Ensembl
Response to folic acid Source: Ensembl
Response to hypoxia Source: Ensembl
Response to interleukin-1 Source: Ensembl
Response to vitamin B2 Source: Ensembl
Response to xenobiotic stimulus Source: Ensembl
S-adenosylmethionine metabolic process Source: Ensembl
Tetrahydrofolate interconversion Source: UniProtKB
Cellular Location
Cytosol
Other locations
synapse
Involvement in disease
Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD):
An autosomal recessive inborn error of folate metabolism. Clinical severity is variable, ranging from severe neurologic features to absence of symptoms. Clinical features include homocysteinuria, homocysteinemia, developmental delay, severe mental retardation, perinatal death, psychiatric disturbances, and later-onset neurodegenerative disorders.
Ischemic stroke (ISCHSTR):
A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors.
Neural tube defects, folate-sensitive (NTDFS):
The most common NTDs are open spina bifida (myelomeningocele) and anencephaly.
Schizophrenia (SCZD):
A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder.
PTM
Phosphorylation of an N-terminal serine-rich phosphorylation region increases sensitivity to S-adenosylmethionine and inhibition.
More Infomation

Petrone, I., Bernardo, P. S., Dos Santos, E. C., & Abdelhay, E. (2021). MTHFR C677T and A1298C polymorphisms in breast cancer, gliomas and gastric cancer: a review. Genes, 12(4), 587.

Raghubeer, S., & Matsha, T. E. (2021). Methylenetetrahydrofolate (MTHFR), the one-carbon cycle, and cardiovascular risks. Nutrients, 13(12), 4562.

Zeng, H., He, D., Zhao, Y., Liu, N. G., & Xie, H. (2021). Association between MTHFR polymorphisms (MTHFR C677T, MTHFR A1298C) and recurrent implantation failure: a systematic review and meta-analysis. Archives of Gynecology and Obstetrics, 303, 1089-1098.

Weile, J., Kishore, N., Sun, S., Maaieh, R., Verby, M., Li, R., ... & Roth, F. P. (2021). Shifting landscapes of human MTHFR missense-variant effects. The American Journal of Human Genetics, 108(7), 1283-1300.

Meng, H., Huang, S., Yang, Y., He, X., Fei, L., & Xing, Y. (2021). Association between MTHFR polymorphisms and the risk of essential hypertension: an updated meta-analysis. Frontiers in genetics, 12, 698590.

Vidmar Golja, M., Šmid, A., Karas Kuželički, N., Trontelj, J., Geršak, K., & Mlinarič-Raščan, I. (2020). Folate insufficiency due to MTHFR deficiency is bypassed by 5-methyltetrahydrofolate. Journal of clinical medicine, 9(9), 2836.

Rainero, I., Vacca, A., Roveta, F., Govone, F., Gai, A., & Rubino, E. (2019). Targeting MTHFR for the treatment of migraines. Expert Opinion on Therapeutic Targets, 23(1), 29-37.

Coppedè, F., Stoccoro, A., Tannorella, P., Gallo, R., Nicolì, V., & Migliore, L. (2019). Association of polymorphisms in genes involved in one-carbon metabolism with MTHFR methylation levels. International journal of molecular sciences, 20(15), 3754.

Sadeghiyeh, T., Dastgheib, S. A., Mirzaee-Khoramabadi, K., Morovati-Sharifabad, M., Akbarian-Bafghi, M. J., Poursharif, Z., ... & Neamatzadeh, H. (2019). Association of MTHFR 677C> T and 1298A> C polymorphisms with susceptibility to autism: A systematic review and meta-analysis. Asian journal of psychiatry, 46, 54-61.

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For research use only. Not intended for any clinical use.

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