full name
5-methyltetrahydrofolate-homocysteine methyltransferase

synonyms
cblG, HMAG, MS, MTR, ENSG00000116984

HGNC
HGNC:7468

Entrez Gene
Gene:4548

ENSEMBL
ENSG00000116984

location
chr: 1
start: 236958581
stop: 237067281
strand: +

OMIM
OMIM:156570: MTR (Autosomal recessive inheritance)
OMIM:250940: Homocystinuria-megaloblastic anemia, cblG complementation type
OMIM:601634: {Neural tube defects, folate-sensitive, susceptibility to}

transcripts
NM_000254.2

pathways
Biological oxidations [NCBI:1270189] [REACTOME:R-HSA-211859]
Biosynthesis of amino acids [NCBI:790012] [KEGG:hsa01230]
Cobalamin (Cbl, vitamin B12) transport and metabolism [NCBI:1270152] [REACTOME:R-HSA-196741] [PUBMED:21312325] [PUBMED:10448521] [PUBMED:20185591] [PUBMED:19832808]
Cysteine and methionine metabolism [NCBI:104488] [KEGG:hsa00270] [PUBMED:18391471] [PUBMED:14551435] [PUBMED:15102328] [PUBMED:12644499] [PUBMED:12670965] [PUBMED:18625006] [PUBMED:19270684] [PUBMED:17169919] [PUBMED:17030798] [PUBMED:10613873] [PUBMED:18520135] [PUBMED:12022921]
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]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
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]
One carbon pool by folate [NCBI:83008] [KEGG:hsa00670]
Phase II conjugation [NCBI:1270207] [REACTOME:R-HSA-156580] [PUBMED:11805192]
Selenocompound metabolism [NCBI:82969] [KEGG:hsa00450] [PUBMED:20383543] [PUBMED:21190829] [PUBMED:19051051] [PUBMED:11782468] [PUBMED:17451884]
Sulfur amino acid metabolism [NCBI:1270181] [REACTOME:R-HSA-1614635] [PUBMED:16702333]
folate transformations I [NCBI:142236] [BIOCYC:HUMAN_PWY-2201] [PUBMED:11001804] [PUBMED:1916088] [PUBMED:405403] [PUBMED:3266075] [PUBMED:2736319] [PUBMED:10833329] [PUBMED:13906633] [PUBMED:3828323] [PUBMED:1247496] [PUBMED:3801490]
methionine salvage [NCBI:142159] [BIOCYC:HUMAN_ADENOSYLHOMOCYSCAT-PWY] [PUBMED:9013615] [PUBMED:8798461] [PUBMED:18230605] [PUBMED:11453979] [PUBMED:3309559] [PUBMED:15189131] [PUBMED:15539209] [PUBMED:6746658]