HMOX1 Chromosome 22
Heme oxygenase 1
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What This Gene Does
Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form biliverdin, which is subsequently converted to bilirubin by biliverdin reductase, and carbon monoxide, a putative neurotransmitter. Heme oxygenase activity is induced by its substrate heme and by various nonheme substances. Heme oxygenase occurs as 2 isozymes, an inducible heme oxygenase-1 and a constitutive heme oxygenase-2. HMOX1 and HMOX2 belong to the heme oxygenase family. [provided by RefSeq, Jul 2008]
Associated Conditions (5)
Heme oxygenase 1 deficiency
Chronic obstructive pulmonary disease
HMOX1-related disorder
Uterine carcinosarcoma
Malignant tumor of esophagus
Key Variants
RS137932222
Conflicting classifications of pathogenicity
Heme oxygenase 1 deficiency, Chronic obstructive pulmonary disease, Heme oxygenase 1 deficiency
Health Risk
RS145427664
Conflicting classifications of pathogenicity
HMOX1-related disorder, HMOX1-related disorder
Health Risk
RS148949789
Conflicting classifications of pathogenicity
Health Risk
RS149487862
Conflicting classifications of pathogenicity
Health Risk
RS747303322
Conflicting classifications of pathogenicity
Health Risk
RS77672261
Conflicting classifications of pathogenicity
Health Risk
RS1601739478
Likely pathogenic
Health Risk
RS2517861714
Likely pathogenic
Health Risk
RS757283184
Likely pathogenic
Health Risk
RS866959693
Likely pathogenic
Health Risk
RS1352922801
Pathogenic
Health Risk
RS1931421939
Pathogenic
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137932222 | Health Risk | Conflicting classifications of pathogenicity | Heme oxygenase 1 deficiency, Chronic obstructive pulmonary disease, Heme oxygenase 1 deficiency |
| RS145427664 | Health Risk | Conflicting classifications of pathogenicity | HMOX1-related disorder, HMOX1-related disorder |
| RS148949789 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149487862 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS747303322 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS77672261 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1601739478 | Health Risk | Likely pathogenic | — |
| RS2517861714 | Health Risk | Likely pathogenic | — |
| RS757283184 | Health Risk | Likely pathogenic | — |
| RS866959693 | Health Risk | Likely pathogenic | — |
| RS1352922801 | Health Risk | Pathogenic | — |
| RS1931421939 | Health Risk | Pathogenic | — |
| RS1931516278 | Health Risk | Pathogenic | — |
| RS1931521433 | Health Risk | Pathogenic | — |
| RS1931525647 | Health Risk | Pathogenic | Heme oxygenase 1 deficiency, Heme oxygenase 1 deficiency |
| RS1931531888 | Health Risk | Pathogenic | Heme oxygenase 1 deficiency, Heme oxygenase 1 deficiency |
| RS201495169 | Health Risk | Pathogenic | — |
| RS2517861689 | Health Risk | Pathogenic | — |
| RS2517863960 | Health Risk | Pathogenic | — |
| RS2517864107 | Health Risk | Pathogenic | — |
| RS2517864138 | Health Risk | Pathogenic | Heme oxygenase 1 deficiency, Heme oxygenase 1 deficiency |
| RS2517864367 | Health Risk | Pathogenic | — |
| RS2517864569 | Health Risk | Pathogenic | — |
| RS747083748 | Health Risk | Pathogenic | Heme oxygenase 1 deficiency, Uterine carcinosarcoma, Malignant tumor of esophagus |
| RS755879599 | Health Risk | Pathogenic | — |
| RS756151512 | Health Risk | Pathogenic | Heme oxygenase 1 deficiency, Heme oxygenase 1 deficiency |
| RS2145766893 | Health Risk | Pathogenic/Likely pathogenic | Heme oxygenase 1 deficiency, Heme oxygenase 1 deficiency |