AHCY
Function
Catalyzes the hydrolysis of S-adenosyl-L-homocysteine to form adenosine and homocysteine (PubMed:10933798). Binds copper ions (By similarity).
Involvement in disease
Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency
HMAHCHD
A metabolic disorder characterized by hypermethioninemia associated with failure to thrive, mental and motor retardation, facial dysmorphism with abnormal hair and teeth, and myocardiopathy.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Amino-acid biosynthesis; L-homocysteine biosynthesis; L-homocysteine from S-adenosyl-L-homocysteine: step 1/1.
Sequence Similarities
Belongs to the adenosylhomocysteinase family.
Cellular localization
- Cytoplasm
- Melanosome
- Nucleus
- Endoplasmic reticulum
- Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
Alternative names
SAHH, AHCY, Adenosylhomocysteinase, AdoHcyase, S-adenosyl-L-homocysteine hydrolase