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Genes
MTRR
Gene - MTRR
full name
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
synonyms
cblE, MSR, MTRR, ENSG00000124275
HGNC
HGNC:7473
Entrez Gene
Gene:4552
ENSEMBL
ENSG00000124275
location
chr: 5
start: 7851299
stop: 7901237
strand: +
OMIM
OMIM:602568
: MTRR
(Autosomal recessive inheritance)
OMIM:236270
: Homocystinuria-megaloblastic anemia, cbl E type
OMIM:601634
: {Neural tube defects, folate-sensitive, susceptibility to}
transcripts
NM_002454.2
NM_024010.2
pathways
Biological oxidations
[NCBI:1270189]
[REACTOME:R-HSA-211859]
Cobalamin (Cbl, vitamin B12) transport and metabolism
[NCBI:1270152]
[REACTOME:R-HSA-196741]
[PUBMED:21312325]
[PUBMED:10448521]
[PUBMED:20185591]
[PUBMED:19832808]
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG
[NCBI:1268969]
[REACTOME:R-HSA-3359469]
[PUBMED:8968737]
[PUBMED:12068375]
[PUBMED:8968736]
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE
[NCBI:1268968]
[REACTOME:R-HSA-3359467]
[PUBMED:10484769]
Defects in cobalamin (B12) metabolism
[NCBI:1268960]
[REACTOME:R-HSA-3296469]
[PUBMED:21312325]
[PUBMED:16846473]
[PUBMED:9587028]
[PUBMED:21114891]
[PUBMED:22547309]
Defects in vitamin and cofactor metabolism
[NCBI:1268959]
[REACTOME:R-HSA-3296482]
Disease
[NCBI:1268854]
[REACTOME:R-HSA-1643685]
Diseases of metabolism
[NCBI:1268939]
[REACTOME:R-HSA-5668914]
Metabolism
[NCBI:1269956]
[REACTOME:R-HSA-1430728]
Metabolism of amino acids and derivatives
[NCBI:1270158]
[REACTOME:R-HSA-71291]
Metabolism of vitamins and cofactors
[NCBI:1270144]
[REACTOME:R-HSA-196854]
Metabolism of water-soluble vitamins and cofactors
[NCBI:1270145]
[REACTOME:R-HSA-196849]
Methylation
[NCBI:1270212]
[REACTOME:R-HSA-156581]
[PUBMED:10898761]
[PUBMED:15130560]
[PUBMED:10331075]
Phase II conjugation
[NCBI:1270207]
[REACTOME:R-HSA-156580]
[PUBMED:11805192]
Sulfur amino acid metabolism
[NCBI:1270181]
[REACTOME:R-HSA-1614635]
[PUBMED:16702333]