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…
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…
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…
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…
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 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 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…
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 SNAI2 gene, also known as the snail family zinc finger 2 gene, is responsible for encoding a protein called Snail. This protein plays a crucial role in the regulation of cell growth and development, as well as in the…
Generalized pustular psoriasis is a rare form of psoriasis in which individuals experience episodes of widespread inflammation and the development of pustules on the skin. It is a severe and potentially life-threatening condition. The exact causes of this condition are…