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 |
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 |
EC Number | Organism | UniProt | Comment | Textmining |
---|---|---|---|---|
3.13.2.1 | Danio rerio | Q803T5 | - |
- |
EC Number | Source Tissue | Comment | Organism | Textmining |
---|---|---|---|---|
3.13.2.1 | larva | - |
Danio rerio | - |
EC Number | Synonyms | Comment | Organism |
---|---|---|---|
3.13.2.1 | AHCY | - |
Danio rerio |
3.13.2.1 | S-adenosylhomocysteine hydrolase | - |
Danio rerio |