martes, 2 de diciembre de 2014

SLC11A2 - solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 - Genetics Home Reference

SLC11A2 - solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the SLC11A2 gene?

The official name of this gene is “solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2.”
SLC11A2 is the gene's official symbol. The SLC11A2 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 SLC11A2 gene?

The SLC11A2 gene provides instructions for making a protein called divalent metal transporter 1 (DMT1). Four different versions (isoforms) of the DMT1 protein are produced from the SLC11A2gene. Each isoform is specific to one or more tissues, but some form of the DMT1 protein is found in all tissues. The primary role of the DMT1 protein is to transport positively charged iron atoms (ions) within cells; however, the protein can transport some other metal ions as well.
In a section of the small intestine called the duodenum, the DMT1 protein is located within finger-like projections called microvilli. These projections absorb nutrients from food as it passes through the intestine and then release them into the bloodstream. In all other cells, including immature red blood cells called erythroblasts, DMT1 is located in the membrane of endosomes, which are specialized compartments that are formed at the cell surface to carry proteins and other molecules to their destinations within the cell. DMT1 transports iron from the endosomes to the cytoplasm so it can be used by the cell.

How are changes in the SLC11A2 gene related to health conditions?

hypochromic microcytic anemia with iron overload - caused by mutations in the SLC11A2 gene
At least seven mutations in the SLC11A2 gene have been found to cause hypochromic microcytic anemia with iron overload. This condition is characterized by a shortage of red blood cells (anemia) that is apparent at birth. The red blood cells that are produced are abnormally small (microcytic) and pale (hypochromic). There is also progressive accumulation of iron in the liver.
Most SLC11A2 gene mutations that cause this condition change single protein building blocks (amino acids) in the DMT1 protein. These mutations lead to reduced production of the DMT1 protein, decreased protein function, or impaired ability of the protein to get to the correct location in cells. In erythroblasts, a shortage of DMT1 protein diminishes the amount of iron transported within cells, even though there is an abundance of iron in the blood. As a result, the development of healthy red blood cells is impaired, leading to a shortage of these cells. In the duodenum, a shortage of DMT1 protein decreases iron absorption. To compensate, cells increase production of functional DMT1 protein, which increases iron absorption. Because the red blood cells cannot use the iron that is absorbed, it accumulates in the liver, eventually impairing liver function. The lack of iron in red blood cells and the accumulation of iron in the liver lead to the signs and symptoms of hypochromic microcytic anemia with iron overload.

Where is the SLC11A2 gene located?

Cytogenetic Location: 12q13
Molecular Location on chromosome 12: base pairs 50,979,782 to 51,028,334
The SLC11A2 gene is located on the long (q) arm of chromosome 12 at position 13.
The SLC11A2 gene is located on the long (q) arm of chromosome 12 at position 13.
More precisely, the SLC11A2 gene is located from base pair 50,979,782 to base pair 51,028,334 on chromosome 12.

Where can I find additional information about SLC11A2?

You and your healthcare professional may find the following resources about SLC11A2 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 SLC11A2 gene or gene products?

  • DCT1
  • divalent cation transporter 1
  • DMT1
  • DMT-1
  • natural resistance-associated macrophage protein 2
  • NRAMP2
  • NRAMP 2
  • solute carrier family 11 member 2
  • solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2

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 SLC11A2?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (9 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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