Submitted Successfully!
To reward your contribution, here is a gift for you: A free trial for our video production service.
Thank you for your contribution! You can also upload a video entry or images related to this topic.
Version Summary Created by Modification Content Size Created at Operation
1
Rui Liu
 + 317 word(s) 317 2020-12-15 08:13:15 |
2 format
Rui Liu
 + 19 word(s) 336 2020-12-25 11:18:01 |

Video Upload Options

Do you have a full video?
Send video materials Upload full video

Confirm

Are you sure to Delete?
Yes No
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Liu, R. TRPM4 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5826 (accessed on 27 July 2024).
Liu R. TRPM4 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5826. Accessed July 27, 2024.
Liu, Rui. "TRPM4 Gene" Encyclopedia, https://encyclopedia.pub/entry/5826 (accessed July 27, 2024).
Liu, R. (2020, December 25). TRPM4 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5826
Liu, Rui. "TRPM4 Gene." Encyclopedia. Web. 25 December, 2020.
TRPM4 Gene
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/trpm4

Transient receptor potential cation channel subfamily M member 4: The TRPM4 gene provides instructions for making a protein called transient receptor potential cation channel subfamily M member 4 (TRPM4). 

genes

1. Normal Function

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.

2. Health Conditions Related to Genetic Changes

2.1. Progressive familial heart block

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.

Brugada syndrome

3. Other Names for This Gene

  • 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
  • TRPM4_HUMAN
  • TRPM4B

References

  1. Abriel H, Syam N, Sottas V, Amarouch MY, Rougier JS. TRPM4 channels in thecardiovascular system: physiology, pathophysiology, and pharmacology. BiochemPharmacol. 2012 Oct 1;84(7):873-81. doi: 10.1016/j.bcp.2012.06.021.
  2. Kruse M, Pongs O. TRPM4 channels in the cardiovascular system. Curr OpinPharmacol. 2014 Apr;15:68-73. doi: 10.1016/j.coph.2013.12.003.Review.
  3. Kruse M, Schulze-Bahr E, Corfield V, Beckmann A, Stallmeyer B, Kurtbay G,Ohmert I, Schulze-Bahr E, Brink P, Pongs O. Impaired endocytosis of the ionchannel TRPM4 is associated with human progressive familial heart block type I. JClin Invest. 2009 Sep;119(9):2737-44. doi: 10.1172/JCI38292.
  4. Stallmeyer B, Zumhagen S, Denjoy I, Duthoit G, Hébert JL, Ferrer X, MaugenreS, Schmitz W, Kirchhefer U, Schulze-Bahr E, Guicheney P, Schulze-Bahr E.Mutational spectrum in the Ca(2+)--activated cation channel gene TRPM4 inpatients with cardiac conductance disturbances. Hum Mutat. 2012 Jan;33(1):109-17.doi: 10.1002/humu.21599.
More
©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.
Upload a video for this entry
Information
Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :
Rui Liu
View Times: 449
Entry Collection: MedlinePlus
Revisions: 2 times (View History)
Update Date: 25 Dec 2020
Table of Contents
    1000/1000
    Hot Most Recent
    Video Production Service
    Feedback