Adenosylhomocysteinase (AHCY) is a tetrameric, NAD+-bound, c...

created [InstanceEdit:5580263] Jassal, Bijay, 2014-06-09
dbId 5580256
displayName Adenosylhomocysteinase (AHCY) is a tetrameric, NAD+-bound, c...
modified [InstanceEdit:5622022] Jassal, Bijay, 2014-09-08
schemaClass Summation
text Adenosylhomocysteinase (AHCY) is a tetrameric, NAD+-bound, cytosolic protein that regulates all adenosylmethionine (AdoMet) dependent transmethylations by hydrolysing the feedback inhibitor adenosylhomocysteine (AdoHcy) to homocysteine (HCYS) and adenosine (Ade-Rib). Defects in AHCY cause Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD; MIM:613752), a metabolic disorder characterised by hypermethioninemia associated with failure to thrive, psychomotor retardation, facial dysmorphism with abnormal hair and teeth and myocardiopathy (Baric et al. 2004).
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