domingo, 8 de febrero de 2015

TRPM6 - transient receptor potential cation channel, subfamily M, member 6 - Genetics Home Reference

TRPM6 - transient receptor potential cation channel, subfamily M, member 6 - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the TRPM6 gene?

The official name of this gene is “transient receptor potential cation channel, subfamily M, member 6.”
TRPM6 is the gene's official symbol. The TRPM6 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 TRPM6 gene?

The TRPM6 gene provides instructions for making a protein that acts as a channel, which allows charged atoms (ions) of magnesium (Mg2+) to flow into cells; the channel may also allow small amounts of calcium ions (Ca2+) to pass through cells. Magnesium is involved in many cell processes, including production of cellular energy, maintenance of DNA building blocks (nucleotides), protein production, and cell growth and death. Additionally, Mg2+ is needed for the production of a substance called parathyroid hormone that regulates blood calcium levels. Magnesium and calcium are also required for the normal functioning of nerve cells that control muscle movement (motor neurons).
The TRPM6 channel is embedded in the membrane of epithelial cells that line the large intestine, structures in the kidneys known as distal convoluted tubules, the lungs, and the testes in males. When the body needs additional Mg2+, the TRPM6 channel allows it to be absorbed in the intestine and filtered from the fluids that pass through the kidneys by the distal convoluted tubules. When the body has sufficient or too much Mg2+, the TRPM6 channel does not filter out the Mg2+ from fluids but allows the ion to be released from the kidney cells into the urine. The channel also helps to regulate Ca2+, but to a lesser degree.

Does the TRPM6 gene share characteristics with other genes?

The TRPM6 gene belongs to a family of genes called TRP (transient receptor potential cation channels).
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 TRPM6 gene related to health conditions?

hypomagnesemia with secondary hypocalcemia - caused by mutations in the TRPM6 gene
At least 38 mutations in the TRPM6 gene have been found to cause hypomagnesemia with secondary hypocalcemia. This condition is characterized by low levels of magnesium (hypomagnesemia) and calcium (hypocalcemia) in the body, which leads to neurological problems that begin in infancy, including muscle spasms and seizures. TRPM6 gene mutations result in a lack of functional protein.
Nonfunctional TRPM6 channels prevent Mg2+ absorption in the intestine and cause too much Mg2+ to be released in the urine. A lack of Mg2+ in the blood impairs the production of parathyroid hormone, which likely reduces blood Ca2+ levels. Additionally, hypomagnesemia and hypocalcemia can disrupt many cell processes and impair the function of motor neurons, leading to neurological problems and movement disorders characteristic of this condition. If the condition is not effectively treated and low Mg2+ levels persist, signs and symptoms can worsen over time and may lead to early death.

Where is the TRPM6 gene located?

Cytogenetic Location: 9q21.13
Molecular Location on chromosome 9: base pairs 74,722,494 to 74,888,093
The TRPM6 gene is located on the long (q) arm of chromosome 9 at position 21.13.
The TRPM6 gene is located on the long (q) arm of chromosome 9 at position 21.13.
More precisely, the TRPM6 gene is located from base pair 74,722,494 to base pair 74,888,093 on chromosome 9.

Where can I find additional information about TRPM6?

You and your healthcare professional may find the following resources about TRPM6 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 TRPM6 gene or gene products?

  • CHAK2
  • channel kinase 2
  • FLJ22628
  • HMGX
  • melastatin-related TRP cation channel 6
  • transient receptor potential cation channel subfamily M member 6

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 TRPM6?

Ca ; calcium ; cation ; cell ; channel ; distal ; DNA ; epithelial ; gene ; hormone ; intestine ; ions ;kidney ; kinase ; motor ; neurological ; parathyroid ; protein ; receptor ; testes ; transient ; Trp
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (7 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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