HMOX1

heme oxygenase 1

2 disorders 1 causative 1 no genetic record 22q12.3 gene with protein product

HGNC:5013 Monarch NCBI Gene 3162 ENSG00000100292 UniProt P09601 OMIM 141250

Aliases: bK286B10, HO-1.

Curated summary · agent-written · kb/genes/curated/hgnc_5013.md

All 14 claims checked against the KB draft

HMOX1 across dismech

HMOX1 (heme oxygenase 1) is named by 2 disorder entries.

Normal function

ai-gene-review gives HMOX1's core molecular functions as heme binding; heme oxygenase (decyclizing) activity; and protein homodimerization activity, acting in heme catabolic process; and heme oxidation at the endoplasmic reticulum membrane.

Causative record

Heme Oxygenase 1 Deficiency types HMOX1 as causative with germline variants, and ClinGen rates the pair strong. The gene sits on the nodes HMOX1 Biallelic Loss of Function and Failure of Stress-Inducible Heme Catabolism.

Other entries

Idiopathic Gastroparesis names HMOX1 only on a mechanism node, Loss of Heme Oxygenase-1 Cytoprotection and Oxidative Stress, with no genetic record.

Where the layers agree

The KB mechanism nodes and the ai-gene-review core functions share heme catabolic process by exact GO identifier.

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 (P09601, 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.

Disorder	Relationship	Where the gene appears
Heme Oxygenase 1 Deficiency	causative germline CLINGEN: strong	mechanism: Failure of Stress-Inducible Heme Catabolism; HMOX1 Biallelic Loss of Function
Idiopathic Gastroparesis	no genetic record	mechanism: Loss of Heme Oxygenase-1 Cytoprotection and Oxidative Stress

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
heme oxygenase 1 deficiency MONDO:0013536	AR	Strong 2023-12-20	Heme Oxygenase 1 Deficiency causative

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