MTHFR

Gene Information
 
Gene Symbol
MTHFR
 
Entrez Gene ID
 
Gene Name
Methylenetetrahydrofolate reductase (NAD(P)H)
 
Chromosomal Location
1p36.3
 
HGNC ID
 
Summary
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.(provided by RefSeq, Oct 2009)
 
GeneCards ID
 
UniGene
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0006520 Biological process Cellular amino acid metabolic process TAS 7647779
GO:0008015 Biological process Blood circulation TAS 7647779
Protein Information
 
Protein Name
Methylenetetrahydrofolate reductase
 
Function
Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine
 
Refseq Proteins
 
UniProt
 
InterPro
Accessions
IPR003171, IPR004621
 
Pfam
Pfam Accession Pfam ID
PF02219 MTHFR Methylenetetrahydrofolate reductase
 
KEGG
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Polycystic ovary syndrome (PCOS) 11561833
Recurrent pregnancy loss 22882325, 14669168
   
References
 
Primary:

Plasminogen activator inhibitor 1 and methylenetetrahydrofolate reductase gene mutations in iranian women with polycystic ovary syndrome.

Idali Farah, Zareii Said, Mohammad-Zadeh Afsane, Reihany-Sabet Fakhreddin, Akbarzadeh-Pasha Zoreh, Khorram-Khorshid Hamid-Reza, Zarnani Amir-Hassan, Jeddi-Tehrani Mahmood
Reproductive Immunology Research Center, Avicenna Research Institute, Tehran, Iran.
Am J Reprod Immunol. 2012 Nov;68(5):400-7. doi: 10.1111/aji.12002. Epub 2012 Aug
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
PAI-1 
Recurrent pregnancy loss 
MTHFR polymorphism (A1298C, C677T) 
 
Related 
Iranian women-38 PCOS & 106 without PCOS(RPL-recurrent pregnancy loss) 
Results showed the significance of MTHFR A1298C and PAI-1 4G/5G mutations in Iranian women suffering from RPL with and without PCOS. 
PAI-1 
Recurrent pregnancy loss (RPL) 
A1298C and C677T 
 
Related 
177 RPL,100 
RPL, RPL-PCOS, and RPL-ovarian PCO groups showed significantly higher frequencies of MTHFR A1298C (P < 0.001) and PAI-1 4G/5G (P < 0.001) mutations than the controls 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
26037361
[Association of methylenetetrahydrofolate reductase gene polymorphisms with polycystic ovary syndrome]. 
Clinical study 
24782006
Gene polymorphisms in female reproduction. 
Clinical study 
24192663
Association of methylenetetrahydrofolate reductase gene C677T polymorphism with polycystic ovary syndrome risk: a systematic review and meta-analysis update. 
Meta analysis 
23683262
Correlation between thrombophilia and recurrent pregnancy loss in patients with polycystic ovary syndrome: a comparative study. 
Clinical study 
23554803, PMC3602870
Etiological risk factors for subfertility among Palestinian women in Gaza. 
Clinical study 

 

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