AMMECR1
AMMECR1[edit | edit source]
AMMECR1 (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis chromosomal region gene 1) is a gene located on the X chromosome in humans. It is associated with a rare genetic disorder that affects multiple systems in the body.
Function[edit | edit source]
The AMMECR1 gene is believed to play a role in the development and function of various tissues, although its exact function is not fully understood. It is located in a region of the X chromosome that is associated with a syndrome characterized by a combination of symptoms including Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis.
Clinical Significance[edit | edit source]
Mutations or deletions in the AMMECR1 gene can lead to a condition known as AMME syndrome. This syndrome is characterized by:
- Alport syndrome: A genetic condition that affects the kidneys, hearing, and eyes. It is caused by mutations in genes that are important for the structure and function of the glomerular basement membrane in the kidneys.
- Intellectual disability: A developmental disorder that affects cognitive functioning and adaptive behavior.
- Midface hypoplasia: Underdevelopment of the middle facial region, which can affect the appearance and function of the face.
- Elliptocytosis: A condition characterized by elliptical-shaped red blood cells, which can lead to hemolytic anemia.
Genetic Inheritance[edit | edit source]
AMMECR1 is located on the X chromosome, which means that the disorder is inherited in an X-linked manner. Males, having only one X chromosome, are more likely to be affected by mutations in this gene, while females, with two X chromosomes, may be carriers and less severely affected.
Research and Studies[edit | edit source]
Research into the AMMECR1 gene is ongoing, with studies focusing on understanding its role in the body and how mutations lead to the symptoms observed in AMME syndrome. Genetic testing can identify mutations in the AMMECR1 gene, which can aid in diagnosis and genetic counseling.
Also see[edit | edit source]
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