Pathway
Defective AHCY causes HMAHCHD
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.
REACT:R-HSA-5578997Reactome
What the reference databases state
Statements
1 statement
1 statement · 1 reference database · Subject: Defective AHCY causes HMAHCHD · Sources: Reactome
- AHCY participates in Defective AHCY causes HMAHCHDProteinReactome R-HSA-5578997Inferred only