Curated summary · agent-written · kb/genes/curated/hgnc_343.md
All 12 claims checked against the KB draft

AHCY across dismech

AHCY (adenosylhomocysteinase) is named by 1 disorder entry.

Normal function

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.

Causative record

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.

Where the layers disagree

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.

Normal function · from ai-gene-review (P23526, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status DRAFT; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

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.

DisorderRelationshipWhere the gene appears
S-Adenosylhomocysteine Hydrolase Deficiency causative germline loss of function
CLINGEN: definitive
mechanism: AHCY Loss of Function
ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

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 diseaseMOIClassificationdismech 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.