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HOGA1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

HOGA1 gene

The HOGA1 gene provides instructions for making an enzyme essential for breaking down hydroxyproline, and mutations in this gene are linked to primary hyperoxaluria type 3.

Normal Function

The HOGA1 gene provides instructions for making the 4-hydroxy-2-oxoglutarate aldolase (HOGA) enzyme. This enzyme is found in liver and kidney cells, specifically within structures called mitochondria, which are the energy-producing centers in cells. The HOGA enzyme is involved in breaking down a protein building block (amino acid) called hydroxyproline. Specifically, during the breakdown process, HOGA cuts (cleaves) a substance called 4-hydroxy-2-oxoglutarate to produce two smaller substances called pyruvate and glyoxylate. In mitochondria, pyruvate is likely involved in energy production, but the function of glyoxylate is unclear.

Health Conditions Related to Genetic Changes

Primary hyperoxaluria

At least 24 mutations in the HOGA1 gene have been found to cause primary hyperoxaluria type 3. This condition is caused by the overproduction of a substance called oxalate. Excess amounts of this substance lead to kidney and bladder stones, which begin in early childhood and often result in blood in the urine (hematuria) and urinary tract infections. A specific mutation that alters the way the gene's instructions are used to make the enzyme (written as 700+5G>T) is present in about half of affected individuals. As a result of HOGA1 gene mutations, the HOGA enzyme cannot break down 4-hydroxy-2-oxoglutarate, which leads to a buildup of this substance in the mitochondria of liver cells.

It is unclear how an accumulation of 4-hydroxy-2-oxoglutarate leads to an overproduction of oxalate in people with primary hyperoxaluria type 3. Some researchers think that the accumulation of 4-hydroxy-2-oxoglutarate interferes with the activity of other enzymes, which lead to the accumulation of substances that get converted into oxalate. Other researchers think that excess 4-hydroxy-2-oxoglutarate in mitochondria may leak out into liver cells. Enzymes within these cells would then convert 4-hydroxy-2-oxoglutarate to glyoxylate, and then convert glyoxylate into oxalate. In individuals with primary hyperoxaluria type 3, the oxalate is filtered through the kidneys and is either excreted in urine as a waste product or combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney and bladder stones.

Other Names for This Gene

  • DHDPS2
  • DHDPSL
  • dihydrodipicolinate synthase-like, mitochondrial
  • dihydrodipicolinate synthetase homolog 2

Frequently Asked Questions

The earliest and most common signs of PH3 are recurrent kidney or bladder stones, which can start in early childhood. Symptoms might include severe abdominal or flank pain, blood in the urine (hematuria), frequent urination, pain during urination, or urinary tract infections. You should seek medical attention promptly if your child experiences these symptoms, especially if they are recurrent.
Diagnosis typically involves measuring oxalate levels in urine (24-hour urine collection) and blood. Imaging studies like ultrasound or CT scans can detect kidney stones. Genetic testing, usually from a blood sample, is crucial to confirm PH3 by identifying mutations in the HOGA1 gene. This helps differentiate PH3 from other types of hyperoxaluria.
While general advice for kidney stone prevention (like adequate hydration) applies, dietary restrictions for PH3 are generally less stringent than for other types of hyperoxaluria. However, some clinicians may recommend limiting foods very high in oxalate, such as spinach, rhubarb, almonds, and chocolate, to further reduce the oxalate load. It's best to consult with a dietitian experienced in kidney disease for personalized dietary guidance.
Management focuses on preventing stone formation and preserving kidney function. This includes drinking plenty of fluids to dilute urine, medications to inhibit stone formation (like potassium citrate), and sometimes specific dietary modifications. Regular monitoring of kidney function and oxalate levels is also essential. In some cases, surgical removal of large stones may be necessary.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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