Gene: HAO1

Alternate names for this Gene: GOX|GOX1|HAOX1

Gene Summary: 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.

Gene is located in Chromosome: 20

Location in Chromosome : 20p12.3

Description of this Gene: hydroxyacid oxidase 1

Type of Gene: protein-coding

rs6077285 in HAO1 gene and Hepatocyte Growth Factor Measurement PMID 27989323 2017 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors.

rs2142697 in HAO1 gene and NEPHROLITHIASIS, CALCIUM OXALATE PMID 24886237 2014 A whole genome SNP genotyping by DNA microarray and candidate gene association study for kidney stone disease.

rs12625899 in HAO1 gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.