viernes, 1 de mayo de 2015

TRPM4 - transient receptor potential cation channel, subfamily M, member 4 - Genetics Home Reference

TRPM4 - transient receptor potential cation channel, subfamily M, member 4 - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the TRPM4 gene?

The official name of this gene is “transient receptor potential cation channel, subfamily M, member 4.”
TRPM4 is the gene's official symbol. The TRPM4 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 TRPM4 gene?

The TRPM4 gene provides instructions for making a protein called transient receptor potential cation channel subfamily M member 4 (TRPM4). This protein acts as a channel, opening and closing at specific times to control the flow of positively charged atoms (cations) into and out of cells. The TRPM4 channel is embedded in the outer membrane of cells throughout the body, but it is abundant in heart (cardiac) cells and plays key roles in these cells' ability to generate and transmit electrical signals. TRPM4 channels play a major role in signaling the start of each heartbeat, coordinating the contractions of the upper and lower chambers of the heart, and maintaining a normal heart rhythm.
In addition to regulating electric signaling in the heart, the TRPM4 channel is important for the normal functioning of the immune system, the nervous system, the kidneys, and the pancreas.

How are changes in the TRPM4 gene related to health conditions?

progressive familial heart block - caused by mutations in the TRPM4 gene
A few mutations in the TRPM4 gene have been found to cause progressive familial heart block. This condition alters the normal beating of the heart and can lead to fainting (syncope) or sudden cardiac arrest and death. The TRPM4 gene mutations change single protein building blocks (amino acids) in the TRPM4 channel. The altered channels have increased activity at the cell membrane, which likely alters the cell's ability to generate electrical signals because of the increased cation flow. Cardiac cells with these altered channels have difficulty producing and transmitting electrical signals that coordinate normal heartbeats. Interruption of this signaling causes heart block. Death of these impaired cardiac cells over time can lead to a buildup of scar tissue (fibrosis), worsening the heart block.
Genetics Home Reference provides information about Brugada syndrome, which is also associated with changes in the TRPM4 gene.

Where is the TRPM4 gene located?

Cytogenetic Location: 19q13.33
Molecular Location on chromosome 19: base pairs 49,157,758 to 49,211,840
The TRPM4 gene is located on the long (q) arm of chromosome 19 at position 13.33.
The TRPM4 gene is located on the long (q) arm of chromosome 19 at position 13.33.
More precisely, the TRPM4 gene is located from base pair 49,157,758 to base pair 49,211,840 on chromosome 19.

Where can I find additional information about TRPM4?

You and your healthcare professional may find the following resources about TRPM4 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 TRPM4 gene or gene products?

  • calcium-activated non-selective cation channel 1
  • hTRPM4
  • long transient receptor potential channel 4
  • LTrpC4
  • melastatin-4
  • transient receptor potential cation channel subfamily M member 4
  • TRPM4B

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 TRPM4?

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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