DHODH gene is a gene that encodes the enzyme Dihydroorotate dehydrogenase (DHODH), which is involved in the biosynthesis of pyrimidines. Pyrimidines are essential building blocks of DNA and RNA. Mutations in the DHODH gene have been associated with a syndrome…
The PRRT2 gene, also known as proline-rich transmembrane protein 2, is a gene that plays a crucial role in the development and function of the nervous system. Mutations in the PRRT2 gene have been associated with several neurological disorders, including…
Genetic conditions are disorders that are caused by abnormalities in a person’s DNA. These conditions can affect various parts of the body and can lead to a wide range of symptoms and complications. Some genetic conditions are more common than…
Marfan syndrome is a genetic disorder that affects the body’s connective tissue. It is caused by mutations in the gene for fibrillin-1, a protein that helps build the elastic fibers in connective tissue. The condition is rare, occurring in about…
Pulmonary veno-occlusive disease (PVOD) is a rare and life-threatening condition that affects the blood vessels in the lungs. It is caused by the narrowing and blockage of the small veins that carry oxygenated blood from the lungs back to the…
Cryopyrin-associated periodic syndromes (CAPS) are a group of rare genetic syndromes associated with periodic fever. CAPS are caused by mutations in the gene encoding cryopyrin, a protein that plays a role in the immune system. Patients with CAPS experience recurring…
The ERCC2 gene, also known as XPD, is a gene that is involved in the repairing of DNA damage. It plays a crucial role in the excision repair pathway, which is responsible for removing damaged DNA caused by exposure to…
The TK2 gene, also known as thymidine kinase 2 gene, is responsible for producing an enzyme called thymidine kinase 2. This enzyme plays a crucial role in the synthesis of DNA in muscle cells and other cells in the body.…
The SLC25A1 gene, also known as the 2-hydroxyglutaric aciduria solute carrier family 25 member 1 gene, is a gene within the mitochondrial solute carrier superfamily. This gene is responsible for coding the protein responsible for transporting certain molecules across the…
The BBS10 gene is a gene that is associated with a rare genetic disorder known as Bardet-Biedl Syndrome (BBS). This gene is responsible for encoding the BBS10 protein, which plays a crucial role in various cellular processes. BBS is a…