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

DCXR gene

The DCXR gene provides instructions for making an enzyme that helps process sugars for energy, detoxify harmful compounds, and support sperm function.

Normal Function

The DCXR gene provides instructions for making a protein called dicarbonyl and L-xylulose reductase (DCXR), which plays multiple roles in the body. One of its functions is to perform a chemical reaction that converts a sugar called L-xylulose to a molecule called xylitol. This reaction is one step in a process by which the body can use sugars for energy. There are two versions of L-xylulose reductase in the body, known as the major isoform and the minor isoform. The DCXR gene provides instructions for making the major isoform, which converts L-xylulose more efficiently than the minor isoform. It is unclear if the minor isoform is produced from the DCXR gene or another gene.

Another function of the DCXR protein is to break down toxic compounds called alpha-dicarbonyl compounds. These compounds, which are byproducts of certain cellular processes or are found in foods in the diet, must be broken down so they do not damage cells.

The DCXR protein is also one of several proteins that get attached to the surface of sperm cells as they mature. DCXR is involved in the interaction of a sperm cell with an egg cell during fertilization.

Health Conditions Related to Genetic Changes

Essential pentosuria

At least two mutations in the DCXR gene cause a condition called essential pentosuria, which is found almost exclusively in individuals with Ashkenazi Jewish ancestry. Affected individuals have high levels of L-xylulose in their urine, but they have no associated health problems.

  • The gene mutations involved in this condition lead to the production of altered DCXR proteins that are quickly broken down.
  • Without this protein, L-xylulose is not efficiently converted to xylitol, and the excess sugar is released in the urine.
  • Only the major isoform of L-xylulose reductase is affected by these mutations, but the minor isoform cannot compensate for the loss of DCXR's function in breaking down L-xylulose.
  • It is thought that other processes are able to break down toxic alpha-dicarbonyl compounds, likely accounting for the lack of symptoms in people with essential pentosuria.

Males with essential pentosuria appear to have normal reproductive function, despite studies that show that a shortage of DCXR protein attached to sperm cells can be associated with the inability to have biological children (infertility).

Other Names for This Gene

  • carbonyl reductase 2
  • carbonyl reductase II
  • DCR
  • dicarbonyl/L-xylulose reductase
  • HCR2
  • HCRII
  • KIDCR
  • kidney dicarbonyl reductase
  • L-xylulose reductase
  • L-xylulose reductase isoform 1
  • L-xylulose reductase isoform 2
  • P34H
  • SDR20C1
  • short chain dehydrogenase/reductase family 20C, member 1
  • sperm surface protein P34H
  • XR

Frequently Asked Questions

While essential pentosuria itself is harmless and requires no treatment, it's important to know about it to avoid misdiagnosis. The presence of L-xylulose in the urine can sometimes be mistaken for glucose, leading to an incorrect diagnosis of diabetes or other metabolic disorders. Awareness prevents unnecessary tests, treatments, or anxiety.
No specific dietary or lifestyle changes are recommended for individuals with essential pentosuria. Since the condition is harmless and does not cause any health problems, there is no need to restrict any foods or alter daily routines. You can maintain a normal diet and lifestyle.
Essential pentosuria is typically diagnosed by a urine test that detects high levels of L-xylulose. A positive test result, especially if confirmed by genetic testing for DCXR gene mutations, means you have this benign metabolic condition. It confirms that the L-xylulose in your urine is not indicative of diabetes or other serious health issues, and no specific medical intervention is needed.
Despite the DCXR protein's involvement in sperm maturation and interaction with egg cells, essential pentosuria caused by DCXR gene mutations is not known to affect male fertility. The specific mutations associated with essential pentosuria do not appear to impair the protein's critical functions related to reproduction, and affected individuals typically have normal fertility.
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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