KEGG   VARIANT: 4548v1
Entry
4548v1                      Variant                                
Name
MTR deficiency
Gene
MTR  5-methyltetrahydrofolate-homocysteine methyltransferase [KO:K00548]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 156570
Network
nt06030  Methionine metabolism
nt06037  Histidine metabolism
nt06538  Cobalamin transport and metabolism
Disease
H00183  Homocystinuria
H00262  Neural tube defects, folate-sensitive
Reference
PMID:12068375
  Authors
Watkins D, Ru M, Hwang HY, Kim CD, Murray A, Philip NS, Kim W, Legakis H, Wai T, Hilton JF, Ge B, Dore C, Hosack A, Wilson A, Gravel RA, Shane B, Hudson TJ, Rosenblatt DS
  Title
Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L.
  Journal
Am J Hum Genet 71:143-53 (2002)
DOI:10.1086/341354
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