HAO1 Chromosome 20

Hydroxyacid oxidase 1
12 variants 12 Health Risk

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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
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
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