Aliases: SAHH, AdoHcyase.
AHCY (adenosylhomocysteinase) is named by 1 disorder entry.
ai-gene-review gives AHCY's core molecular function as adenosylhomocysteinase activity, acting in L-homocysteine biosynthetic process; and L-methionine cycle: the enzyme hydrolyses S-adenosyl-L-homocysteine, the product inhibitor of methyltransferases, to adenosine and homocysteine.
The one entry that names AHCY, S-Adenosylhomocysteine Hydrolase Deficiency, types it causative with a germline origin, and records a loss of function impact. ClinGen rates the gene definitive for this disease. The gene sits on the node AHCY Loss of Function, which marks the same adenosylhomocysteinase activity that ai-gene-review gives as the core function as decreased.
The KB's AHCY node carries a molecular-function term but no GO process, so the two layers share 0 process terms by identifier; at the level of molecular function they agree.
Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.
ai-gene-review has this gene at status DRAFT; the description is shown only once the review is complete. Read the draft upstream.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| S-Adenosylhomocysteine Hydrolase Deficiency |
causative
germline
loss of function
CLINGEN: definitive
|
mechanism: AHCY Loss of Function
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0013404 | AR | Definitive 2024-12-13 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.