The ERCC8 gene, also known as Cockayne Syndrome B (CSB) or CKN1, is a genetic component involved in transcription-coupled nucleotide excision repair. Mutations in this gene can lead to Cockayne syndrome, a rare genetic disorder characterized by various physical and…
The GALK1 gene is responsible for producing the enzyme galactokinase. This enzyme plays a crucial role in breaking down galactose, a sugar found in dairy products and other foods. Galactose is then converted into glucose, which is used for energy…
The EFHC1 gene is associated with a rare form of epilepsy called myoclonic epilepsy. It is responsible for the production of a protein that plays a role in the regulation of neurons in the brain. This protein is thought to…
The NCF1 gene, also known as p47phox, is a central component of the neutrophil oxidative burst system. Mutations in this gene cause a variant of chronic granulomatous disease, which is a genetic disorder characterized by recurrent and life-threatening infections and…
The HNRNPK gene is a protein-coding gene that is involved in various cellular processes, including gene expression, RNA processing, and cellular differentiation. It has been linked to several health conditions and diseases, including certain types of cancers and genetic syndromes.…
15q24 microdeletion is a rare genetic condition that affects a small portion of the population. It is characterized by the deletion of genetic material on the 15q24 chromosome. This condition has been the focus of scientific research, with studies conducted…
The ACTB gene, also known as the beta-actin gene, is responsible for encoding a protein called beta-actin. Beta-actin is one of the most abundant and highly conserved proteins in eukaryotic cells. It plays a crucial role in various cellular processes,…
The L2HGDH gene, also known as the L-2-hydroxyglutarate dehydrogenase gene, is one of the genes responsible for a condition called L-2-hydroxyglutaric aciduria. This gene provides instructions for making an enzyme that helps break down a compound called L-2-hydroxyglutarate. When mutations…
The LPL gene (lipoprotein lipase) is responsible for encoding an enzyme that plays a crucial role in lipid metabolism. Lipoprotein lipase breaks down fats from the bloodstream and converts them into energy that can be used by the body. Mutations…
Miller-Dieker syndrome, also known as Lissencephaly Type I, is a rare genetic disorder that is associated with a loss of genetic material on chromosome 17. This condition is characterized by a smooth brain surface, often referred to as “smooth brain”…