Curated summary · agent-written · kb/genes/curated/hgnc_4809.md
All 12 claims checked against the KB draft

HAO1 across dismech

HAO1 (hydroxyacid oxidase 1) is named by 1 disorder entry.

Normal function

ai-gene-review gives HAO1's core molecular functions as (S)-2-hydroxy-acid oxidase activity; and FMN binding, acting in glycolate catabolic process in the peroxisomal matrix.

Causative record

One entry types HAO1 as causative: HAO1-Related Glycolate Oxidase Deficiency, and it records the variants as germline. The gene sits on the node HAO1 Glycolate Oxidase Deficiency. ClinGen classifies HAO1 for 0 diseases, so no validity tier can be copied onto the record.

Where the layers agree

The KB's HAO1 node and ai-gene-review share glycolate catabolic process by exact identifier. The KB node annotates loss of the gene with glycolate catabolic process; and glyoxylate metabolic process, the second being the downstream consequence of glycolate oxidation rather than a separate activity.

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 (Q9UJM8, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; 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
HAO1-Related Glycolate Oxidase Deficiency causative germline
mechanism: HAO1 Glycolate Oxidase Deficiency

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.