Gene: HOGA1

Alternate names for this Gene: C10orf65|DHDPS2|DHDPSL|HP3|NPL2

Gene Summary: The authors of PMID:20797690 cloned this gene while searching for genes in a region of chromosome 10 linked to primary hyperoxalurea type III. They noted that even though the encoded protein has been described as a mitochondrial dihydrodipicolinate synthase-like enzyme, it shares little homology with E. coli dihydrodipicolinate synthase (Dhdps), particularly in the putative substrate-binding region. Moreover, neither lysine biosynthesis nor sialic acid metabolism, for which Dhdps is responsible, occurs in vertebrate mitochondria. They propose that this gene encodes mitochondrial 4-hydroxyl-2-oxoglutarate aldolase (EC 4.1.3.16), which catalyzes the final step in the metabolic pathway of hydroxyproline, releasing glyoxylate and pyruvate. This gene is predominantly expressed in the liver and kidney, and mutations in this gene are found in patients with primary hyperoxalurea type III. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.

Gene is located in Chromosome: 10

Location in Chromosome : 10q24.2

Description of this Gene: 4-hydroxy-2-oxoglutarate aldolase 1

Type of Gene: protein-coding

rs7078003 in HOGA1 gene and Amino acids measurement PMID 27005778 2016 Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA.

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.

PMID 25644115 2015 Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.

PMID 22781098 2013 Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.

PMID 22851625 2012 The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type III.

PMID 24563386 2015 4-hydroxyglutamate is a biomarker for primary hyperoxaluria type 3.

PMID 25629080 2015 Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.

PMID 27096395 2016 Cellular degradation of 4-hydroxy-2-oxoglutarate aldolase leads to absolute deficiency in primary hyperoxaluria type 3.

PMID 25972204 2015 Renal function can be impaired in children with primary hyperoxaluria type 3.

PMID 28711958 2017 Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III.

rs7078003 in HOGA1 gene and Protein measurement PMID 27005778 2016 Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA.

rs11817730 in HOGA1 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.