MTRR

Gene Name		5-methyltetrahydrofolate-homocysteine methyltransferase reductase
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Gene Ontology Annotations	Cellular Component	Nucleoplasm Cytoplasm Cytosol Intermediate Filament Cytoskeleton
	Molecular Function	NADPH-hemoprotein Reductase Activity Iron Ion Binding FMN Binding Oxidoreductase Activity, Acting On Paired Donors, With Incorporation Or Reduction Of Molecular Oxygen, NAD(P)H As One Donor, And Incorporation Of One Atom Of Oxygen Oxidoreductase Activity, Oxidizing Metal Ions, NAD Or NADP As Acceptor [methionine Synthase] Reductase Activity Flavin Adenine Dinucleotide Binding NADP Binding
	Biological Process	Sulfur Amino Acid Metabolic Process DNA Methylation Methionine Metabolic Process Vitamin Metabolic Process Water-soluble Vitamin Metabolic Process Xenobiotic Metabolic Process Methionine Biosynthetic Process Cobalamin Metabolic Process Methylation Cellular Nitrogen Compound Metabolic Process Small Molecule Metabolic Process Folic Acid Metabolic Process Oxidation-reduction Process
Pathways		Metabolism of vitamins and cofactors Defective CD320 causes methylmalonic aciduria Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF Defective AHCY causes Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) Defective BTD causes biotidinase deficiency Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) Sulfur amino acid metabolism Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC Defective UGT1A4 causes hyperbilirubinemia Defective MTR causes methylmalonic aciduria and homocystinuria type cblG Metabolic disorders of biological oxidation enzymes Metabolism of amino acids and derivatives Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE Defective AMN causes hereditary megaloblastic anemia 1 Defective UGT1A1 causes hyperbilirubinemia Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD) Biological oxidations Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) Defective GGT1 causes Glutathionuria (GLUTH) Defects in cobalamin (B12) metabolism Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) Defective GIF causes intrinsic factor deficiency Defective OPLAH causes 5-oxoprolinase deficiency (OPLAHD) Defective HLCS causes multiple carboxylase deficiency Defective MMAB causes methylmalonic aciduria type cblB Defective MAT1A causes Methionine adenosyltransferase deficiency (MATD) Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD Defective MMAA causes methylmalonic aciduria type cblA Defective CUBN causes hereditary megaloblastic anemia 1 Cobalamin (Cbl, vitamin B12) transport and metabolism Phase II conjugation Methylation Defective MUT causes methylmalonic aciduria mut type Metabolism of water-soluble vitamins and cofactors Defects in biotin (Btn) metabolism Defective TCN2 causes hereditary megaloblastic anemia Defects in vitamin and cofactor metabolism
Drugs		Cyanocobalamin L-Methionine Hydroxocobalamin
Diseases
GWAS		Capecitabine sensitivity ( 22864933)
Protein-protein Interactions		2 interactors: GMCL1 MMAB
Entrez ID		4552
HPRD ID		03979
Ensembl ID		ENSG00000124275
Uniprot IDs		Q9UBK8
PDB IDs		2QTL 2QTZ
Enriched GO Terms of Interacting Partners?		Cobalamin Biosynthetic Process Cobalamin Metabolic Process
Tagcloud ?		aa aas african american ancestry asian associations carbon circle comparisons copyright correcting ea eas eleven european folate metabolizing modest participated polygenetic polymorphisms reserved rights shmt1 slc19a1 snps tyms