The LDLRAP1 gene is involved in the regulation of cholesterol levels in the bloodstream. It codes for a protein that helps remove low-density lipoprotein receptors (LDLR) from the surface of cells, allowing for the uptake of LDL cholesterol into the…
Coats Plus syndrome is a rare condition that is characterized by the presence of Coats disease, in addition to other clinical features. Coats disease is a rare eye disorder that affects the blood vessels behind the retina, leading to vision…
The ALDH7A1 gene provides instructions for making an enzyme called alpha-aminoadipic semialdehyde dehydrogenase. This enzyme is involved in the breakdown of certain molecules called lysine and tryptophan. Lysine is an amino acid that is a building block of proteins, while…
The POLR3B gene, also known as polymerase (RNA) III (DNA directed) polypeptide B, is responsible for encoding one of the subunits of RNA polymerase III, an enzyme involved in RNA synthesis. This gene is related to POLR3-related leukodystrophy, a genetic…
Wagner syndrome is a rare genetic condition that affects vision. It is caused by mutations in the genes associated with vitreoretinopathy, a disorder that affects the back of the eye. The syndrome is named after the German ophthalmologist, Dr. U.…
The MT-ND1 gene is part of a complex system of genes that are responsible for the production of resources and energy within our bodies. It is one of the genes that is commonly tested for in genetic testing. The MT-ND1…
Intestinal pseudo-obstruction is a rare condition that has been the subject of scientific research by certain experts in the field. According to a study by Wangler et al., this condition is associated with a variety of genetic causes and can…
Clopidogrel resistance is a condition where patients do not respond to the benefits of clopidogrel, a medication that helps prevent blood clots from forming in the body. This resistance can be caused by genetic factors, specifically genes like CYP2C19 and…
Alzheimer’s disease (AD), the most common cause of dementia in older people, is a neurodegenerative condition that affects the brain and leads to a gradual decline in cognitive function, memory loss, and changes in behavior. The exact cause of Alzheimer’s…
The PIGT gene is a certain gene that plays a crucial role in the body’s production of proteins. It is involved in a process called pig-t, which is responsible for the synthesis of certain proteins that are important for the…