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]