GeneID: 27
Names
| Common Name: | HAO2 | Type: | Gene |
|---|---|---|---|
| Chromosome: | 1 (NC_000001.11) | Locus: | NG_011967.1 (HAO2) |
| HUGO Symbol: | HAO2 | Full Name: | Hydroxyacid oxidase 2 |
| Exons: | 9 | Introns: | 8 |
Description:
This gene is one of three related genes that have 2-hydroxyacid oxidase activity although they 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 predominantly in the liver and kidney and exhibits greater activity toward the substrate 2-hydroxypalmitate. Two alternatively spliced variants encoding the same isoform have been described. Polymorphisms in this gene associated with the HbF response to Hydroxyurea (HU) in sickle cell patients.
Synonyms: (S)-2-hydroxy-acid oxidase , GIG16 , glycolate oxidase , growth-inhibiting protein 16 , HAOX2 , long-chain L-2-hydroxy acid oxidase
Comments:
N/A
Number of entries/variants: 1
Publications / Origin
- Jones JM, Morrell JC, Gould SJ, Identification and characterization of HAOX1, HAOX2, and HAOX3, three human peroxisomal 2-hydroxy acid oxidases., J. Biol. Chem. , 275(17), 12590-7, 2000
- Ma Q, Wyszynski DF, Farrell JJ, Kutlar A, Farrer LA, Baldwin CT, Steinberg MH, Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea., Pharmacogenomics J. , 7(6), 386-94, 2007