Variant: rs138207257 

    present in Gene: HOGA1
    present in Chromosome: 10
    Position on Chromosome: 97611535
    Alleles of this Variant: G/A;T

rs138207257 in HOGA1 gene and Primary hyperoxaluria type III PMID 20797690 2010 Mutations in DHDPSL are responsible for primary hyperoxaluria type III.

PMID 22391140 2012 The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.

PMID 22771891 2012 4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition.

PMID 21998747 2011 Structural and biochemical studies of human 4-hydroxy-2-oxoglutarate aldolase: implications for hydroxyproline metabolism in primary hyperoxaluria.

PMID 21896830 2011 Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.