HOGA1 Chromosome 10
4-hydroxy-2-oxoglutarate aldolase 1
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What This Gene Does
The authors of PMID:20797690 cloned this gene while searching for genes in a region of chromosome 10 linked to primary hyperoxalurea type III. They noted that even though the encoded protein has been described as a mitochondrial dihydrodipicolinate synthase-like enzyme, it shares little homology with E. coli dihydrodipicolinate synthase (Dhdps), particularly in the putative substrate-binding region. Moreover, neither lysine biosynthesis nor sialic acid metabolism, for which Dhdps is responsible, occurs in vertebrate mitochondria. They propose that this gene encodes mitochondrial 4-hydroxyl-2-oxoglutarate aldolase (EC 4.1.3.16), which catalyzes the final step in the metabolic pathway of hydroxyproline, releasing glyoxylate and pyruvate. This gene is predominantly expressed in the liver and kidney, and mutations in this gene are found in patients with primary hyperoxalurea type III. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2010]
Associated Conditions (12)
Primary hyperoxaluria type 3
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
HOGA1-related disorder
Familial cancer of breast
Colon adenocarcinoma
Melanoma
Malignant tumor of esophagus
Malignant tumor of urinary bladder
Thyroid cancer
nonmedullary
1
Key Variants
RS115282699
Conflicting classifications of pathogenicity
Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
Health Risk
RS115431683
Conflicting classifications of pathogenicity
Primary hyperoxaluria type 3, Inborn genetic diseases, Primary hyperoxaluria type 3
Health Risk
RS144103035
Conflicting classifications of pathogenicity
Primary hyperoxaluria type 3, Inborn genetic diseases, Primary hyperoxaluria type 3
Health Risk
RS148094180
Conflicting classifications of pathogenicity
Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
Health Risk
RS149896778
Conflicting classifications of pathogenicity
Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
Health Risk
RS150812556
Conflicting classifications of pathogenicity
Primary hyperoxaluria type 3, Inborn genetic diseases, Primary hyperoxaluria type 3
Health Risk
RS1589907586
Conflicting classifications of pathogenicity
Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
Health Risk
RS200127255
Conflicting classifications of pathogenicity
Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
Health Risk
RS200529020
Conflicting classifications of pathogenicity
Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
Health Risk
RS201347931
Conflicting classifications of pathogenicity
Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
Health Risk
RS201630144
Conflicting classifications of pathogenicity
Primary hyperoxaluria type 3, Inborn genetic diseases, Primary hyperoxaluria type 3
Health Risk
RS201683794
Conflicting classifications of pathogenicity
Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
Health Risk
All Variants (134)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2135723890 | Health Risk | Likely pathogenic | — |
| RS2540060692 | Health Risk | Likely pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS2540060695 | Health Risk | Likely pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS2540074585 | Health Risk | Likely pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS2540074927 | Health Risk | Likely pathogenic | — |
| RS2540075778 | Health Risk | Likely pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS2540078331 | Health Risk | Likely pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS2540086673 | Health Risk | Likely pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS2540086855 | Health Risk | Likely pathogenic | — |
| RS377638985 | Health Risk | Likely pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS553573861 | Health Risk | Likely pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS749315029 | Health Risk | Likely pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS752277936 | Health Risk | Likely pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS756489804 | Health Risk | Likely pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS759146945 | Health Risk | Likely pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS759407659 | Health Risk | Likely pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS764224799 | Health Risk | Likely pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS765160493 | Health Risk | Likely pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS766236522 | Health Risk | Likely pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS766897646 | Health Risk | Likely pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS773306071 | Health Risk | Likely pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS776628325 | Health Risk | Likely pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS776817346 | Health Risk | Likely pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS779492256 | Health Risk | Likely pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS796052084 | Health Risk | Likely pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS796052087 | Health Risk | Likely pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS796052089 | Health Risk | Likely pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS990830655 | Health Risk | Likely pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS1249492478 | Health Risk | Pathogenic | — |
| RS1266297781 | Health Risk | Pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS1267512916 | Health Risk | Pathogenic | — |
| RS1311447368 | Health Risk | Pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS1564760008 | Health Risk | Pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS1589899290 | Health Risk | Pathogenic | — |
| RS185803104 | Health Risk | Pathogenic | Primary hyperoxaluria type 3, HOGA1-related disorder, Familial cancer of breast |
| RS2041104962 | Health Risk | Pathogenic | — |
| RS2041105506 | Health Risk | Pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS2135711169 | Health Risk | Pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS2135711274 | Health Risk | Pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS2135721735 | Health Risk | Pathogenic | — |
| RS2135722265 | Health Risk | Pathogenic | — |
| RS2135722531 | Health Risk | Pathogenic | — |
| RS2135722575 | Health Risk | Pathogenic | — |
| RS2135729861 | Health Risk | Pathogenic | — |
| RS2540060643 | Health Risk | Pathogenic | — |
| RS2540060652 | Health Risk | Pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS2540074052 | Health Risk | Pathogenic | — |
| RS2540086681 | Health Risk | Pathogenic | — |
| RS267606763 | Health Risk | Pathogenic | Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |
| RS529940373 | Health Risk | Pathogenic | — |