KEGG   VARIANT: 191v1
Entry
191v1                      Variant                                 
Name
AHCY deficiency
Gene
AHCY  adenosylhomocysteinase [KO:K01251]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 180960
Network
nt06030  Methionine metabolism
Disease
H00184  Hypermethioninemia
Reference
  Authors
Baric I, Fumic K, Glenn B, Cuk M, Schulze A, Finkelstein JD, James SJ, Mejaski-Bosnjak V, Pazanin L, Pogribny IP, Rados M, Sarnavka V, Scukanec-Spoljar M, Allen RH, Stabler S, Uzelac L, Vugrek O, Wagner C, Zeisel S, Mudd SH
  Title
S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism.
  Journal
Proc Natl Acad Sci U S A 101:4234-9 (2004)
DOI:10.1073/pnas.0400658101
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