TCHH Gene

Version	Summary	Created by	Modification	Content Size	Created at	Operation
1		Rui Liu	+ 277 word(s)	277	2020-12-15 08:11:57

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

Trichohyalin: The TCHH gene provides instructions for making a protein called trichohyalin. This protein is primarily found in hair follicles, which are specialized structures in the skin where hair growth occurs.

genes

1. Normal Function

The TCHH gene provides instructions for making a protein called trichohyalin. This protein is primarily found in hair follicles, which are specialized structures in the skin where hair growth occurs. Trichohyalin can also be found in the hair strand (shaft). Once trichohyalin is produced, it is modified by other proteins so that it can attach (bind) to other trichohyalin proteins and to molecules called keratin intermediate filaments to create organized cross-links. These links form dense networks that give the hair shaft its cylindrical shape.

2. Health Conditions Related to Genetic Changes

2.1. Uncombable hair syndrome

At least one mutation in the TCHH 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 TCHH gene mutation that has been identified leads to a premature stop signal in the instructions used to make trichohyalin, resulting in an abnormally short protein with severely reduced activity. A shortage (deficiency) of functional protein reduces the cross-links that are formed between trichohyalin proteins and keratin intermediate filaments. As a result, 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

AHF
THH
THL
TRHY

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.
Takase T, Hirai Y. Identification of the C-terminal tail domain ofAHF/trichohyalin as the critical site for modulation of the keratin filamentousmeshwork in the keratinocyte. J Dermatol Sci. 2012 Feb;65(2):141-8. doi:10.1016/j.jdermsci.2011.12.014.
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: 672

Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

Table of Contents

Video Upload Options

Confirm