Primary Identifier | MGI:1914682 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 67432 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable (R,S)-4-hydroxy-2-oxoglutarate aldolase activity and protein homodimerization activity. Predicted to be involved in carboxylic acid metabolic process. Located in mitochondrion. Used to study primary hyperoxaluria. Human ortholog(s) of this gene implicated in primary hyperoxaluria type 3. Orthologous to human HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal urinary excretion of oxalate but show increased urine 2,4-dihydroxyglutarate (DHG) levels especially when challenged by the inclusion of hydroxyproline in the diet. [provided by MGI curators] |