AMELX
AMELX is a gene that provides instructions for making a protein called amelogenin. This protein is essential for the normal development of tooth enamel, which is a hard, white material that forms the protective outer layer of each tooth. The AMELX gene is located on the X chromosome.
Function[edit | edit source]
The AMELX gene provides instructions for making a protein called amelogenin. This protein is essential for the normal development of tooth enamel. Amelogenin makes up more than 90 percent of the enamel's organic (non-mineral) content. This protein plays a critical role in regulating the thickness of the enamel and promoting the growth of long, thin crystals of a mineral called hydroxyapatite. These crystals make up the hard, protective enamel.
Genetic Changes[edit | edit source]
More than 15 mutations in the AMELX gene have been identified in people with X-linked amelogenesis imperfecta, a condition that affects the structure and appearance of tooth enamel. These mutations change single protein building blocks (amino acids) in the amelogenin protein or delete a small amount of DNA from the AMELX gene. As a result, the amelogenin protein is unstable and quickly broken down, or it is missing entirely. Without enough functional amelogenin, tooth enamel is abnormally thin and soft and may have a yellow or brown color. Teeth with defective enamel are weak and easily damaged.
Inheritance[edit | edit source]
This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females.
See Also[edit | edit source]
References[edit | edit source]
- Genetics Home Reference: AMELX
- OMIM: AMELOGENIN, X-LINKED; AMELX
| AMELX Resources | |
|---|---|
|
 |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
