HOGA1 Antibody, FITC conjugated

1. Results show that HOGA1 harboring mutations found in primary hyperoxaluria is thermally unstable and targeted for proteolytic degradation leading to an absolute loss of function. PMID: 27096395
2. Among the seven patients identified with HOGA1 mutations the median onset of clinical symptoms was 1.8 years. Five patients initially presented with urolithiasis, and two other patients presented with urinary tract infection. PMID: 25972204
3. Our results strongly suggest HOGA1 as a major cause of PH, indicate a greater genetic heterogeneity of hyperoxaluria, and point to a favorable outcome of type III in the context of PH despite incomplete or absent biochemical remission PMID: 22781098
4. seven different mutations were identified in primary hyperoxaluria type 3 PMID: 22391140
5. Two crystal forms of DHDPSL were obtained, both of which diffracted X-rays to approximately 2.0 A resolution PMID: 22232173
6. hHOGA utilizes a type I aldolase reaction mechanism, but employs novel residue interactions for substrate binding PMID: 21998747
7. Detection of HOGA1 variants in idiopathic calcium oxalate urolithiasis also suggests HOGA1 may be a predisposing factor for this condition PMID: 21896830
8. DHDPSL is the gene encoding 4-hydroxy-2-oxoglutarate aldolase, catalyzing the final step in the metabolic pathway of hydroxyproline. PMID: 20797690

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HGNC: 25155

OMIM: 613597

KEGG: hsa:112817

STRING: 9606.ENSP00000359680

UniGene: Hs.180346