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Literature summary extracted from

  • Matthews, R.P.; Lorent, K.; Manoral-Mobias, R.; Huang, Y.; Gong, W.; Murray, I.V.; Blair, I.A.; Pack, M.
    TNFalpha-dependent hepatic steatosis and liver degeneration caused by mutation of zebrafish S-adenosylhomocysteine hydrolase (2009), Development, 136, 865-875.
    View publication on PubMedView publication on EuropePMC

Application

EC Number Application Comment Organism
3.13.2.1 medicine AHCY polymorphisms and AHCY inhibitors, which are promising in treating autoimmunity and other disorders, may be a risk factor for steatosis, particularly in patients with diabetes, obesity and liver disorders such as hepatitis C infection Danio rerio

Protein Variants

EC Number Protein Variants Comment Organism
3.13.2.1 M291T positional cloning identifies a causative mutation in the gene encoding Ahcy (missense mutation in exon 8, mutation resides in the NAD-binding domain), leading to hepatic steatosis and liver degeneration. Reduced Ahcy activity in mutants leads to elevated levels of S-adenosylhomocysteine (SAH) and of its metabolic precursor S-adenosylmethionine. Elevated SAH in mutant larvae is associated with mitochondrial defects and increased expression of tnfa and pparg, an ortholog of the mammalian lipogenic gene. Antisense knockdown of tnfa rescues hepatic steatosis and liver degeneration in mutant larvae Danio rerio

Organism

EC Number Organism UniProt Comment Textmining
3.13.2.1 Danio rerio Q803T5
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Source Tissue

EC Number Source Tissue Comment Organism Textmining
3.13.2.1 larva
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 Danio rerio
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Synonyms

EC Number Synonyms Comment Organism
3.13.2.1 AHCY
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 Danio rerio
3.13.2.1 S-adenosylhomocysteine hydrolase
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 Danio rerio