MTHFR

Gene Name		methylenetetrahydrofolate reductase (NAD(P)H)
Image		No pdb structure
Gene Ontology Annotations	Cellular Component	Cytosol Neuron Projection
	Molecular Function	Methylenetetrahydrofolate Reductase (NAD(P)H) Activity Flavin Adenine Dinucleotide Binding NADP Binding Modified Amino Acid Binding
	Biological Process	Response To Hypoxia Cellular Amino Acid Metabolic Process One-carbon Metabolic Process Vitamin Metabolic Process Water-soluble Vitamin Metabolic Process Blood Circulation Methionine Biosynthetic Process Response To Vitamin B2 Tetrahydrofolate Interconversion Response To Drug Response To Amino Acid Small Molecule Metabolic Process S-adenosylmethionine Metabolic Process Folic Acid Metabolic Process Homocysteine Metabolic Process Response To Folic Acid Oxidation-reduction Process Response To Interleukin-1
Pathways		Metabolism of vitamins and cofactors Defective CD320 causes methylmalonic aciduria Defective GIF causes intrinsic factor deficiency Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF Defective HLCS causes multiple carboxylase deficiency Defective MMAB causes methylmalonic aciduria type cblB Defective BTD causes biotidinase deficiency Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD Defective MTR causes methylmalonic aciduria and homocystinuria type cblG Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE Defective MMAA causes methylmalonic aciduria type cblA Defective CUBN causes hereditary megaloblastic anemia 1 Defective AMN causes hereditary megaloblastic anemia 1 Defective MUT causes methylmalonic aciduria mut type Metabolism of water-soluble vitamins and cofactors Defects in biotin (Btn) metabolism Metabolism of folate and pterines Defective TCN2 causes hereditary megaloblastic anemia Defects in cobalamin (B12) metabolism Defects in vitamin and cofactor metabolism
Drugs		Cyanocobalamin Tetrahydrofolic acid
Diseases
GWAS		Atrial fibrillation ( 19597492) Blood pressure ( 21909110) Folate pathway vitamin levels ( 19744961) Homocysteine levels ( 20031578) Systolic blood pressure ( 19430483)
Protein-protein Interactions		1 interactors: LSM8
Entrez ID		4524
HPRD ID		06158
Ensembl ID		ENSG00000177000
Uniprot IDs		P42898 Q59GJ6 Q5SNW6 Q8IU67
PDB IDs
Enriched GO Terms of Interacting Partners?
Tagcloud ?		1298cc 2756a 2756aa 2756ag 677t 677tt bc cypriot cyprus dietary folate greek highlighting mastos mediterranean micronutrients modifiers modify mtr orq4vs ors pca q1 resembles rs1801131 rs1801133 rs1805087 snps taqman