The APRT gene, also known as Adenine Phosphoribosyltransferase gene, is a scientific term that refers to a specific gene responsible for the production of the APRT enzyme. The APRT enzyme plays a crucial role in the purine salvage pathway, which…
The FREM2 gene, also known as Fraser extracellular matrix complex subunit 2, plays a crucial role in the development and function of various organs, including the kidneys and urinary tract. Mutations or changes in the FREM2 gene have been associated…
Genetic Conditions H include a wide range of disorders that affect various systems in the body. One such condition is Hutchinson-Gilford Progeria Syndrome (HGPS), also known as the “premature aging disease.” HGPS is a rare genetic disorder characterized by accelerated…
Cytochrome P450 oxidoreductase deficiency is a rare genetic condition that affects both men and women. It is also known by other names such as POR deficiency and combined P450 oxidase deficiency. This condition is caused by mutations in the POR…
The NSD2 gene, also known as nuclear receptor binding SET domain protein 2, is a genetic gene that has been extensively studied in scientific research. It plays a significant role in multiple diseases and conditions, including myeloma and Wolf-Hirschhorn syndrome.…
Brugada syndrome is a rare genetic disease that affects the electrical system in the heart, resulting in abnormal heartbeats. This syndrome, also known as Sudden Unexplained Nocturnal Death Syndrome (SUNDS), is estimated to have a frequency of 5 in 10,000…
Familial partial lipodystrophy is a rare genetic condition that is characterized by abnormal distribution of fats in various parts of the body. This condition is associated with a number of serious medical problems, including liver disease and other metabolic abnormalities.…
Baraitser-Winter syndrome is a rare genetic condition that affects the development of multiple parts of the body. It was first described in 1988 by Baraitser and Winter, and since then, more information about this syndrome has been published on PubMed,…
The FKRP gene, also known as the Fukutin Related Protein gene, is a gene that plays a crucial role in the function of muscles. It is particularly important for the health of skeletal muscles, which are responsible for voluntary movement.…
The CASK gene is a gene that is associated with intellectual disability. It is listed in various databases and scientific articles as being related to intellectual disability and other genetic conditions. The gene provides instructions for making a protein that…