TGM3 Gene

Version	Summary	Created by	Modification	Content Size	Created at	Operation
1		Rui Liu	+ 309 word(s)	309	2020-12-15 08:12:26

This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/tgm3

Transglutaminase 3: The TGM3 gene provides instructions for making an enzyme called transglutaminase 3.

genes

1. Normal Function

The TGM3 gene provides instructions for making an enzyme called transglutaminase 3. This enzyme is found in certain skin cells called keratinocytes and corneocytes, as well as in various structures that make up scalp hair, including the root and strand (shaft).

Transglutaminase 3 helps proteins attach (bind) to each other at specific protein building blocks (amino acids). Specifically, transglutaminase 3 helps bind proteins together at their glutamine and lysine amino acids. This binding forms stabilizing cross-links between proteins. These protein cross-links provide strength and structure to cells, particularly skin and hair cells.

2. Health Conditions Related to Genetic Changes

2.1. Uncombable hair syndrome

At least one mutation in the TGM3 gene has been found to cause uncombable hair syndrome. This condition is characterized by dry, frizzy, blond scalp hair that cannot be combed flat. This condition usually improves over time, and by adolescence individuals with uncombable hair syndrome have hair that lies flat and has normal or nearly normal texture.

The TGM3 gene mutation that has been identified leads to a premature stop signal in the instructions used to make transglutaminase 3, resulting in an abnormally short enzyme with severely reduced activity. A shortage (deficiency) of functional enzyme impairs cross-linking between certain proteins. Particularly, the hair shaft protein trichohyalin cannot bind to other trichohyalin proteins or to molecules called keratin intermediate filaments. These proteins and molecules need to bind to each other to form the cross-links that give the hair shaft its cylindrical shape. Because transglutaminase 3 cannot facilitate these cross-links, the cross-section of the hair shaft becomes triangular, heart-shaped, or flat. These angular hair shafts result in frizzy hair that will not lie flat, which is typical of uncombable hair syndrome.

3. Other Names for This Gene

E polypeptide, protein-glutamine-gamma-glutamyltransferase
protein-glutamine gamma-glutamyltransferase E
TG(E)
TGase E
TGase-3
TGE
transglutaminase E

References

Calderon P, Otberg N, Shapiro J. Uncombable hair syndrome. J Am Acad Dermatol.2009 Sep;61(3):512-5. doi: 10.1016/j.jaad.2009.01.006.
John S, Thiebach L, Frie C, Mokkapati S, Bechtel M, Nischt R, Rosser-Davies S,Paulsson M, Smyth N. Epidermal transglutaminase (TGase 3) is required for proper hair development, but not the formation of the epidermal barrier. PLoS One.2012;7(4):e34252. doi: 10.1371/journal.pone.0034252.
Ü Basmanav FB, Cau L, Tafazzoli A, Méchin MC, Wolf S, Romano MT, Valentin F,Wiegmann H, Huchenq A, Kandil R, Garcia Bartels N, Kilic A, George S, Ralser DJ, Bergner S, Ferguson DJP, Oprisoreanu AM, Wehner M, Thiele H, Altmüller J,Nürnberg P, Swan D, Houniet D, Büchner A, Weibel L, Wagner N, Grimalt R, Bygum A,Serre G, Blume-Peytavi U, Sprecher E, Schoch S, Oji V, Hamm H, Farrant P, SimonM, Betz RC. Mutations in Three Genes Encoding Proteins Involved in Hair ShaftFormation Cause Uncombable Hair Syndrome. Am J Hum Genet. 2016 Dec1;99(6):1292-1304. doi: 10.1016/j.ajhg.2016.10.004.

©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: 492

Entry Collection: MedlinePlus

Update Date: 25 Dec 2020

Table of Contents

Video Upload Options

Confirm