FZD6 Gene

Ver.	Summary	Created by	Modification	Content Size	Created at	Operation
1		Vivi Li	+ 280 word(s)	280	2020-12-15 07:54:02

This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/fzd6

Frizzled class receptor 6

genes

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 :

Vivi Li

View Times: 262

Entry Collection: MedlinePlus

Update Date: 25 Dec 2020

Table of Contents

1. Normal Function

The FZD6 gene provides instructions for making a protein called frizzled-6. This protein is embedded in the outer membrane of cells, where it is involved in transmitting chemical signals from outside the cell to the cell's nucleus.

Specifically, frizzled-6 participates in the Wnt signaling pathway, a series of steps that affect the way cells and tissues develop. Wnt signaling is important for cell division (proliferation), attachment of cells to one another (adhesion), cell movement (migration), and many other cellular activities. At the cell surface, frizzled-6 attaches (binds) to certain proteins, which triggers the frizzled-6 protein to send signals into the cell and initiate the Wnt signaling pathway.

Frizzled-6 is active in many tissues. During early development it plays a critical role in the growth and development of nails, particularly the attachment of the nail to the nail bed. Studies suggest that frizzled-6 is also involved in hair growth.

2. Health Conditions Related to Genetic Changes

2.1 Nonsyndromic Congenital Nail Disorder 10

At least three mutations in the FZD6 gene have been found to cause nonsyndromic congenital nail disorder 10. This condition is characterized by abnormally thick fingernails and toenails that may appear claw-like. The mutations lead to the production of a frizzled-6 protein that cannot get to the cell membrane where it is needed or that cannot transmit signals into the cell. As a result, Wnt signaling is disrupted and the growth and development of nails is poorly regulated, which leads to separation of the nail from the underlying nail bed (onycholysis) and other abnormalities of the fingernails and toenails.

3. Other Names for This Gene

frizzled 6, seven transmembrane spanning receptor
frizzled family receptor 6
frizzled homolog 6
FZ-6
FZ6
HFZ6

References

Fröjmark AS, Schuster J, Sobol M, Entesarian M, Kilander MBC, Gabrikova D,Nawaz S, Baig SM, Schulte G, Klar J, Dahl N. Mutations in Frizzled 6 causeisolated autosomal-recessive nail dysplasia. Am J Hum Genet. 2011 Jun10;88(6):852-860. doi: 10.1016/j.ajhg.2011.05.013.
Guo N, Hawkins C, Nathans J. Frizzled6 controls hair patterning in mice. Proc Natl Acad Sci U S A. 2004 Jun 22;101(25):9277-81.
Naz G, Pasternack SM, Perrin C, Mattheisen M, Refke M, Khan S, Gul A, SimonsM, Ahmad W, Betz RC. FZD6 encoding the Wnt receptor frizzled 6 is mutated inautosomal-recessive nail dysplasia. Br J Dermatol. 2012 May;166(5):1088-94. doi: 10.1111/j.1365-2133.2011.10800.x.
Raza SI, Muhammad N, Khan S, Ahmad W. A novel missense mutation in the geneFZD6 underlies autosomal recessive nail dysplasia. Br J Dermatol. 2013Feb;168(2):422-5. doi: 10.1111/j.1365-2133.2012.11203.x.

©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