3s5n

Structural highlights

Disease

HOGA1_HUMAN Primary hyperoxaluria type 3. The disease is caused by mutations affecting the gene represented in this entry.

Function

HOGA1_HUMAN Catalyzes the final step in the metabolic pathway of hydroxyproline.^{[1] [2]}

See Also

• Aldolase 3D structures

References

1. ↑ Belostotsky R, Seboun E, Idelson GH, Milliner DS, Becker-Cohen R, Rinat C, Monico CG, Feinstein S, Ben-Shalom E, Magen D, Weissman I, Charon C, Frishberg Y. Mutations in DHDPSL are responsible for primary hyperoxaluria type III. Am J Hum Genet. 2010 Sep 10;87(3):392-9. doi: 10.1016/j.ajhg.2010.07.023. PMID:20797690 doi:http://dx.doi.org/10.1016/j.ajhg.2010.07.023
2. ↑ Riedel TJ, Johnson LC, Knight J, Hantgan RR, Holmes RP, Lowther WT. Structural and Biochemical Studies of Human 4-hydroxy-2-oxoglutarate Aldolase: Implications for Hydroxyproline Metabolism in Primary Hyperoxaluria. PLoS One. 2011;6(10):e26021. Epub 2011 Oct 6. PMID:21998747 doi:10.1371/journal.pone.0026021