domingo, 8 de febrero de 2015

DCXR - dicarbonyl/L-xylulose reductase - Genetics Home Reference

DCXR - dicarbonyl/L-xylulose reductase - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the DCXR gene?

The official name of this gene is “dicarbonyl/L-xylulose reductase.”
DCXR is the gene's official symbol. The DCXR gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.

What is the normal function of the DCXR gene?

The DCXR gene provides instructions for making a protein called dicarbonyl/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.

How are changes in the DCXR gene related to health conditions?

essential pentosuria - caused by mutations in the DCXR gene
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).

Where is the DCXR gene located?

Cytogenetic Location: 17q25.3
Molecular Location on chromosome 17: base pairs 82,035,880 to 82,037,696
The DCXR gene is located on the long (q) arm of chromosome 17 at position 25.3.
The DCXR gene is located on the long (q) arm of chromosome 17 at position 25.3.
More precisely, the DCXR gene is located from base pair 82,035,880 to base pair 82,037,696 on chromosome 17.

Where can I find additional information about DCXR?

You and your healthcare professional may find the following resources about DCXR helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the DCXR gene or gene products?

  • carbonyl reductase 2
  • carbonyl reductase II
  • DCR
  • HCR2
  • 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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding DCXR?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (8 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook

No hay comentarios:

Publicar un comentario