Entity Details

Primary name MTRR
Entity type gene
Source Source Link

Details

PrimaryID4552
RefseqGeneNG_008856
SymbolMTRR
Name5-methyltetrahydrofolate-homocysteine methyltransferase reductase
Chromosome5
Location5p15.31
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-04-20
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsMTRR_HUMAN

GO terms

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GOName
GO:0000096 sulfur amino acid metabolic process
GO:0003958 NADPH-hemoprotein reductase activity
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0006306 DNA methylation
GO:0009086 methionine biosynthetic process
GO:0009235 cobalamin metabolic process
GO:0010181 FMN binding
GO:0016491 oxidoreductase activity
GO:0016709 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
GO:0016723 oxidoreductase activity, acting on metal ions, NAD or NADP as acceptor
GO:0030586 [methionine synthase] reductase activity
GO:0032259 methylation
GO:0033353 S-adenosylmethionine cycle
GO:0043418 homocysteine catabolic process
GO:0045111 intermediate filament cytoskeleton
GO:0046655 folic acid metabolic process
GO:0050660 flavin adenine dinucleotide binding
GO:0050667 homocysteine metabolic process
GO:0070402 NADPH binding
GO:0071949 FAD binding
GO:1904042 negative regulation of cystathionine beta-synthase activity

Diseases

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Disease IDSourceNameDescription
236270 OMIMHomocystinuria-megaloblastic anemia, cblE complementation type (HMAE)An autosomal recessive inborn error of metabolism resulting from defects in the cobalamin-dependent pathway that converts homocysteine to methionine. It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia. Cells from patients with HMAE fail to incorporate methyltetrahydrofolate into methionine in whole cells, but cell extracts show normal methionine synthase activity in the presence of a reducing agent. The disease is caused by variants affecting the gene represented in this entry.
601634 OMIMNeural tube defects, folate-sensitive (NTDFS)The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Interactions

12 interactions