miércoles, 21 de enero de 2015

SLC22A12 - solute carrier family 22 (organic anion/urate transporter), member 12 - Genetics Home Reference

SLC22A12 - solute carrier family 22 (organic anion/urate transporter), member 12 - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the SLC22A12 gene?

The official name of this gene is “solute carrier family 22 (organic anion/urate transporter), member 12.”
SLC22A12 is the gene's official symbol. The SLC22A12 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 SLC22A12 gene?

The SLC22A12 gene provides instructions for making a protein called urate transporter 1 (URAT1). This protein is found in the kidneys, specifically in structures called proximal tubules. These structures help to reabsorb needed nutrients, water, and other materials into the blood and excrete unneeded substances into the urine. Within the proximal tubules, the URAT1 protein helps transport molecules by exchanging negatively charged atoms (anions) for a substance called uric acid. Uric acid is a byproduct of certain normal chemical reactions in the body. In the bloodstream it acts as an antioxidant, protecting cells from the damaging effects of unstable molecules called free radicals. However, having too much uric acid in the body is toxic, so excess uric acid is removed from the body in urine. The URAT1 protein helps reabsorb uric acid (or a similar version of this substance called urate) into the bloodstream or release it into the urine, depending on the body's needs. Most uric acid that is filtered through the kidneys is reabsorbed into the bloodstream; about 10 percent is released into urine.

Does the SLC22A12 gene share characteristics with other genes?

The SLC22A12 gene belongs to a family of genes called SLC (solute carriers).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the SLC22A12 gene related to health conditions?

renal hypouricemia - caused by mutations in the SLC22A12 gene
More than 30 mutations in the SLC22A12 gene have been found to cause renal hypouricemia. This condition results in a reduced amount of uric acid in the blood. Renal hypouricemia often does not cause any health problems but can lead to pain and nausea after exercise, kidney stones, or blood in the urine (hematuria). Most of the mutations that cause renal hypouricemia replace single protein building blocks (amino acids) in the URAT1 protein and reduce the protein's ability to reabsorb uric acid into the bloodstream. The most common mutation in affected Japanese and South Korean individuals replaces the amino acid tryptophan at position 258 with a premature stop signal (Trp258Ter or W258X), resulting in an abnormally short protein. A reduction in URAT1's ability to reabsorb uric acid results in a shortage of uric acid in the blood and an excessive amount lost through the urine. While it is not clear how these changes in uric acid levels lead to the signs and symptoms of renal hypouricemia, it is likely that the loss of uric acid's antioxidant properties in combination with the increase in uric acid passing through the kidneys to be released in urine contribute to the characteristic features of this condition.
other disorders - associated with the SLC22A12 gene
Some studies have found variations in the SLC22A12 gene to be associated with a condition called gout, which is a form of arthritis resulting from uric acid crystals in the joints. These variants likely impair the URAT1 protein's ability to release uric acid into the urine. As a result, too much uric acid is reabsorbed into the bloodstream, causing a buildup of uric acid in the body. This excess uric acid often accumulates in the body's joints in the form of crystals, leading to painful arthritis. Other studies, however, have not found an association betweenSLC22A12 gene variants and gout. While the role of the SLC22A12 gene in gout may be unclear, it is known that a combination of lifestyle, genetic, and environmental factors play a part in determining the risk of this complex disorder.

Where is the SLC22A12 gene located?

Cytogenetic Location: 11q13.1
Molecular Location on chromosome 11: base pairs 64,590,640 to 64,602,352
The SLC22A12 gene is located on the long (q) arm of chromosome 11 at position 13.1.
The SLC22A12 gene is located on the long (q) arm of chromosome 11 at position 13.1.
More precisely, the SLC22A12 gene is located from base pair 64,590,640 to base pair 64,602,352 on chromosome 11.

Where can I find additional information about SLC22A12?

You and your healthcare professional may find the following resources about SLC22A12 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 SLC22A12 gene or gene products?

  • OAT4L
  • organic anion transporter 4-like protein
  • renal-specific transporter
  • RST
  • solute carrier family 22 member 12
  • solute carrier family 22 (organic anion/cation transporter), member 12
  • URAT1
  • urate anion exchanger 1
  • urate transporter 1

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 SLC22A12?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (6 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.

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