Curated summary · agent-written · kb/genes/curated/hgnc_877.md

All 12 claims checked against the KB draft

ALDH7A1 across dismech

ALDH7A1 (aldehyde dehydrogenase 7 family member A1), also called antiquitin, is named by 1 disorder entry, Pyridoxine-Dependent Epilepsy.

Normal function

ai-gene-review gives ALDH7A1's core molecular functions as L-aminoadipate-semialdehyde dehydrogenase [NAD(P)+] activity; and aldehyde dehydrogenase (NAD+) activity, acting in L-lysine catabolic process; aldehyde metabolic process; and negative regulation of ferroptosis.

Causative record

Pyridoxine-Dependent Epilepsy types ALDH7A1 as causative, with a germline variant origin. The gene sits on the node Antiquitin (ALDH7A1) Deficiency.

Agreement between the layers

The KB mechanism and the ai-gene-review core functions share L-lysine catabolic process: loss of the lysine-degradation step is what lets alpha-aminoadipic semialdehyde and its cyclic form accumulate and inactivate PLP.

ClinGen classifies ALDH7A1 for 1 disease, and the ClinGen diseases with no matching dismech entry are pyridoxine-dependent epilepsy. The entry is anchored on the narrower MONDO term for the ALDH7A1-caused form, while ClinGen's assertion uses the broader pyridoxine-dependent epilepsy term, so the ClinGen tier is not copied onto the entry's genetic record.

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 (P49419, 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.

Disorder	Relationship	Where the gene appears
Pyridoxine-Dependent Epilepsy	causative germline	mechanism: Antiquitin (ALDH7A1) Deficiency

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 disease	MOI	Classification	dismech entry
pyridoxine-dependent epilepsy MONDO:0009945	AR	Definitive 2019-07-26	no dismech entry