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Details on Person Adenosylhomocysteinase (AHCY) is a tetrameric, NAD+-bound, c...
| Class:Id | Summation:5579071 |
|---|---|
| _displayName | Adenosylhomocysteinase (AHCY) is a tetrameric, NAD+-bound, c... |
| _timestamp | 2014-06-09 14:20:38 |
| created | [InstanceEdit:5579090] Jassal, Bijay, 2014-06-06 |
| modified | [InstanceEdit:5580263] Jassal, Bijay, 2014-06-09 |
| 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) (Turner et al. 1998, Yang et al. 2003). 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. Gene analysis revealed two mutations that can cause HMAHCHD; W112* and Y143C (Baric et al. 2004). |
| (summation) | [FailedReaction:5579084] Defective AHCY does not hydrolyse AdoHcy [Homo sapiens] |
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No pathways have been reviewed or authored by Adenosylhomocysteinase (AHCY) is a tetrameric, NAD+-bound, c... (5579071)
