KEGG   VARIANT: 4552v1
Entry
4552v1                      Variant                                
Name
MTRR deficiency
Type
Loss of function
Gene
MTRR  5-methyltetrahydrofolate-homocysteine methyltransferase reductase [KO:K00597]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602568
Network
nt06538  Cobalamin transport and metabolism
Disease
H00183  Homocystinuria
H00262  Neural tube defects, folate-sensitive
Reference
PMID:12555939
  Authors
Zavadakova P, Fowler B, Zeman J, Suormala T, Pristoupilova K, Kozich V, Zavad'akova P
  Title
CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families.
  Journal
J Inherit Metab Dis 25:461-76 (2002)
DOI:10.1023/a:1021299117308
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