HAO1 Chromosome 20
Hydroxyacid oxidase 1
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What This Gene Does
This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two-carbon substrate. The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in pancreas may represent an alternatively spliced form or the use of a multiple near-consensus upstream polyadenylation site. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
20p12.3
Ensembl
ENSG00000101323
Associated Conditions (3)
Nephrolithiasis
calcium oxalate
glycolate oxidase deficiency
Key Variants
RS2142697
association
Nephrolithiasis, calcium oxalate, Nephrolithiasis
Health Risk
RS2205818
association
Nephrolithiasis, calcium oxalate, Nephrolithiasis
Health Risk
RS2235245
association
Nephrolithiasis, calcium oxalate, Nephrolithiasis
Health Risk
RS2235250
association
Nephrolithiasis, calcium oxalate, Nephrolithiasis
Health Risk
RS2255183
association
Nephrolithiasis, calcium oxalate, Nephrolithiasis
Health Risk
RS2294301
association
Nephrolithiasis, calcium oxalate, Nephrolithiasis
Health Risk
RS2294305
association
Nephrolithiasis, calcium oxalate, Nephrolithiasis
Health Risk
RS2423326
association
Nephrolithiasis, calcium oxalate, Nephrolithiasis
Health Risk
RS6055363
association
Nephrolithiasis, calcium oxalate, Nephrolithiasis
Health Risk
RS6118004
association
Nephrolithiasis, calcium oxalate, Nephrolithiasis
Health Risk
RS6140463
association
Nephrolithiasis, calcium oxalate, Nephrolithiasis
Health Risk
RS768618504
Pathogenic
glycolate oxidase deficiency, glycolate oxidase deficiency
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2142697 | Health Risk | association | Nephrolithiasis, calcium oxalate, Nephrolithiasis |
| RS2205818 | Health Risk | association | Nephrolithiasis, calcium oxalate, Nephrolithiasis |
| RS2235245 | Health Risk | association | Nephrolithiasis, calcium oxalate, Nephrolithiasis |
| RS2235250 | Health Risk | association | Nephrolithiasis, calcium oxalate, Nephrolithiasis |
| RS2255183 | Health Risk | association | Nephrolithiasis, calcium oxalate, Nephrolithiasis |
| RS2294301 | Health Risk | association | Nephrolithiasis, calcium oxalate, Nephrolithiasis |
| RS2294305 | Health Risk | association | Nephrolithiasis, calcium oxalate, Nephrolithiasis |
| RS2423326 | Health Risk | association | Nephrolithiasis, calcium oxalate, Nephrolithiasis |
| RS6055363 | Health Risk | association | Nephrolithiasis, calcium oxalate, Nephrolithiasis |
| RS6118004 | Health Risk | association | Nephrolithiasis, calcium oxalate, Nephrolithiasis |
| RS6140463 | Health Risk | association | Nephrolithiasis, calcium oxalate, Nephrolithiasis |
| RS768618504 | Health Risk | Pathogenic | glycolate oxidase deficiency, glycolate oxidase deficiency |