SUV420H2
SUV420H2 Gene: A Critical Regulator of Gene Expression
Description
The SUV420H2 gene is located on chromosome 19 in humans. It encodes a protein that plays a crucial role in gene expression by methylating histone proteins. Histone methylation is a chemical modification that can alter the structure of chromatin, the DNA-protein complex that makes up chromosomes. By modifying histones, SUV420H2 regulates which genes are turned on or off in cells.
Associated Diseases
Mutations in the SUV420H2 gene have been linked to several diseases, including:
- Weaver syndrome: A rare genetic disorder that affects growth, development, and intellectual ability.
- Intellectual disability: A condition characterized by significant limitations in intellectual functioning.
- Autism spectrum disorder (ASD): A complex developmental disorder that affects social interaction, communication, and behavior.
- Transient neonatal diabetes mellitus (TNDM): A rare form of diabetes that occurs in newborns and usually resolves within a few months.
Did you Know ?
Research has shown that SUV420H2 mutations are found in approximately 1.5% of individuals with Weaver syndrome.
