Aliases for HAO1 Gene
External Ids for HAO1 Gene
Previous HGNC Symbols for HAO1 Gene
Previous GeneCards Identifiers for HAO1 Gene
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]
GeneCards Summary for HAO1 Gene
HAO1 (Hydroxyacid Oxidase 1) is a Protein Coding gene. Diseases associated with HAO1 include Primary Hyperoxaluria and Dermatitis, Atopic, 3. Among its related pathways are Carbon metabolism and Glyoxylate and dicarboxylate metabolism. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and FMN binding. An important paralog of this gene is HAO2.
UniProtKB/Swiss-Prot Summary for HAO1 Gene
Has 2-hydroxyacid oxidase activity. Most active on the 2-carbon substrate glycolate, but is also active on 2-hydroxy fatty acids, with high activity towards 2-hydroxy palmitate and 2-hydroxy octanoate.