HPD Chromosome 12
4-hydroxyphenylpyruvate dioxygenase
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What This Gene Does
The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a cause of tyrosinemia type 3 (TYRO3) and hawkinsinuria (HAWK). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
Gene Info
Gene Group
Glyoxalase domain containing
Locus Type
gene with protein product
Location
12q24.31
Ensembl
ENSG00000158104
Associated Conditions (5)
Tyrosinemia type III
Hawkinsinuria
HPD-related disorder
Inborn genetic diseases
6 conditions
Key Variants
RS117079110
Conflicting classifications of pathogenicity
Tyrosinemia type III, Hawkinsinuria, Tyrosinemia type III
Health Risk
RS137852868
Conflicting classifications of pathogenicity
Tyrosinemia type III, Hawkinsinuria, HPD-related disorder
Health Risk
RS140144597
Conflicting classifications of pathogenicity
Tyrosinemia type III, Hawkinsinuria, Inborn genetic diseases
Health Risk
RS142321451
Conflicting classifications of pathogenicity
Tyrosinemia type III, Hawkinsinuria, Tyrosinemia type III
Health Risk
RS144544907
Conflicting classifications of pathogenicity
Tyrosinemia type III, Hawkinsinuria, HPD-related disorder
Health Risk
RS149081239
Conflicting classifications of pathogenicity
Tyrosinemia type III, Hawkinsinuria, Tyrosinemia type III
Health Risk
RS200866898
Conflicting classifications of pathogenicity
Hawkinsinuria, Tyrosinemia type III, Hawkinsinuria
Health Risk
RS542121054
Conflicting classifications of pathogenicity
Tyrosinemia type III, Hawkinsinuria, Tyrosinemia type III
Health Risk
RS545913399
Conflicting classifications of pathogenicity
Hawkinsinuria, Tyrosinemia type III, Hawkinsinuria
Health Risk
RS751753975
Conflicting classifications of pathogenicity
Tyrosinemia type III, Hawkinsinuria, Tyrosinemia type III
Health Risk
RS756242095
Conflicting classifications of pathogenicity
Hawkinsinuria, Tyrosinemia type III, Hawkinsinuria
Health Risk
RS767720774
Conflicting classifications of pathogenicity
Hawkinsinuria, Tyrosinemia type III, Hawkinsinuria
Health Risk
All Variants (42)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117079110 | Health Risk | Conflicting classifications of pathogenicity | Tyrosinemia type III, Hawkinsinuria, Tyrosinemia type III |
| RS137852868 | Health Risk | Conflicting classifications of pathogenicity | Tyrosinemia type III, Hawkinsinuria, HPD-related disorder |
| RS140144597 | Health Risk | Conflicting classifications of pathogenicity | Tyrosinemia type III, Hawkinsinuria, Inborn genetic diseases |
| RS142321451 | Health Risk | Conflicting classifications of pathogenicity | Tyrosinemia type III, Hawkinsinuria, Tyrosinemia type III |
| RS144544907 | Health Risk | Conflicting classifications of pathogenicity | Tyrosinemia type III, Hawkinsinuria, HPD-related disorder |
| RS149081239 | Health Risk | Conflicting classifications of pathogenicity | Tyrosinemia type III, Hawkinsinuria, Tyrosinemia type III |
| RS200866898 | Health Risk | Conflicting classifications of pathogenicity | Hawkinsinuria, Tyrosinemia type III, Hawkinsinuria |
| RS542121054 | Health Risk | Conflicting classifications of pathogenicity | Tyrosinemia type III, Hawkinsinuria, Tyrosinemia type III |
| RS545913399 | Health Risk | Conflicting classifications of pathogenicity | Hawkinsinuria, Tyrosinemia type III, Hawkinsinuria |
| RS751753975 | Health Risk | Conflicting classifications of pathogenicity | Tyrosinemia type III, Hawkinsinuria, Tyrosinemia type III |
| RS756242095 | Health Risk | Conflicting classifications of pathogenicity | Hawkinsinuria, Tyrosinemia type III, Hawkinsinuria |
| RS767720774 | Health Risk | Conflicting classifications of pathogenicity | Hawkinsinuria, Tyrosinemia type III, Hawkinsinuria |
| RS113367095 | Health Risk | Likely pathogenic | Hawkinsinuria, Tyrosinemia type III, Hawkinsinuria |
| RS113472814 | Health Risk | Likely pathogenic | Hawkinsinuria, Tyrosinemia type III, Hawkinsinuria |
| RS137852865 | Health Risk | Likely pathogenic | Tyrosinemia type III, Hawkinsinuria, Tyrosinemia type III |
| RS1592913789 | Health Risk | Likely pathogenic | 6 conditions, 6 conditions |
| RS1783054698 | Health Risk | Likely pathogenic | — |
| RS201751544 | Health Risk | Likely pathogenic | Hawkinsinuria, Tyrosinemia type III, Hawkinsinuria |
| RS2500289988 | Health Risk | Likely pathogenic | Tyrosinemia type III, Tyrosinemia type III |
| RS2500298650 | Health Risk | Likely pathogenic | Tyrosinemia type III, Tyrosinemia type III |
| RS2500329430 | Health Risk | Likely pathogenic | Hawkinsinuria, Tyrosinemia type III, Hawkinsinuria |
| RS2500331848 | Health Risk | Likely pathogenic | Hawkinsinuria, Tyrosinemia type III, Hawkinsinuria |
| RS1276998235 | Health Risk | Pathogenic | Hawkinsinuria, Hawkinsinuria |
| RS1294210561 | Health Risk | Pathogenic | Hawkinsinuria, Tyrosinemia type III, Hawkinsinuria |
| RS137852866 | Health Risk | Pathogenic | Tyrosinemia type III, Tyrosinemia type III |
| RS137852867 | Health Risk | Pathogenic | Tyrosinemia type III, Tyrosinemia type III |
| RS1386803894 | Health Risk | Pathogenic | Hawkinsinuria, Tyrosinemia type III, Hawkinsinuria |
| RS142252243 | Health Risk | Pathogenic | Hawkinsinuria, Tyrosinemia type III, Tyrosinemia type III |
| RS2137619413 | Health Risk | Pathogenic | Tyrosinemia type III, Tyrosinemia type III |
| RS2137631671 | Health Risk | Pathogenic | Hawkinsinuria, Tyrosinemia type III, Hawkinsinuria |
| RS2500289881 | Health Risk | Pathogenic | Hawkinsinuria, Tyrosinemia type III, Hawkinsinuria |
| RS2500298619 | Health Risk | Pathogenic | Tyrosinemia type III, Hawkinsinuria, Tyrosinemia type III |
| RS2500323693 | Health Risk | Pathogenic | Hawkinsinuria, Tyrosinemia type III, Hawkinsinuria |
| RS2500327296 | Health Risk | Pathogenic | Hawkinsinuria, Tyrosinemia type III, Hawkinsinuria |
| RS2500327527 | Health Risk | Pathogenic | Hawkinsinuria, Tyrosinemia type III, Hawkinsinuria |
| RS2500327565 | Health Risk | Pathogenic | Tyrosinemia type III, Hawkinsinuria, Tyrosinemia type III |
| RS2500329137 | Health Risk | Pathogenic | Hawkinsinuria, Tyrosinemia type III, Hawkinsinuria |
| RS895823217 | Health Risk | Pathogenic | Hawkinsinuria, Tyrosinemia type III, Hawkinsinuria |
| RS367674632 | Health Risk | Pathogenic/Likely pathogenic | Hawkinsinuria, Tyrosinemia type III, Hawkinsinuria |
| RS747956311 | Health Risk | Pathogenic/Likely pathogenic | Tyrosinemia type III, Hawkinsinuria, Tyrosinemia type III |
| RS762267460 | Health Risk | Pathogenic/Likely pathogenic | Hawkinsinuria, Tyrosinemia type III, Hawkinsinuria |
| RS775747384 | Health Risk | Pathogenic/Likely pathogenic | Hawkinsinuria, Tyrosinemia type III, Hawkinsinuria |