Moebius syndrome is a rare congenital neurological disorder that is characterized by facial paralysis and the inability to move the eyes from side to side. The exact causes of the condition are unknown, although genetic factors are believed to play…
The MUTYH gene plays a crucial role in maintaining the integrity of the cell’s DNA. Mutations in this gene can lead to various diseases, including adenomatous polyposis and other conditions related to changes in DNA replication and glycosylase activity. The…
Familial pityriasis rubra pilaris (PRP) is a rare genetic condition that affects multiple members of a family. PRP is a skin disorder characterized by the development of thick, scaly patches on the palms of the hands and/or the soles of…
Genetic tests are a way to study the genes and variations in the genome of individuals. These tests can help determine genetic information associated with specific conditions and can be used to determine the presence of certain gene variants or…
The GSS gene, also known as the glutathione synthetase gene, is responsible for encoding the enzyme glutathione synthetase. This enzyme plays a crucial role in the synthesis of glutathione, a compound that is involved in many important processes in the…
The CTNND2 gene, also known as δ-catenin, is a gene that plays a crucial role in various biological processes. It is located on chromosome 5 and has been found to be associated with a wide spectrum of conditions and disorders,…
The KRT14 gene, also known as keratin 14, is a genetic variant that is associated with several dermatological conditions. It is one among the many keratin genes that are responsible for the synthesis of keratins, which are proteins that make…
The MYH3 gene provides instructions for making a protein called myosin-3. This protein is part of a family of proteins called myosins, which are involved in the movement of muscles. MYH3 is mainly active in skeletal muscles, which are the…
Familial restrictive cardiomyopathy (RCM) is a rare genetic condition that affects the heart’s ability to contract and relax properly, leading to impaired heart function. Patients with familial RCM often experience symptoms such as fatigue, shortness of breath, and swelling in…
The SKI gene is a gene that plays a role in signaling pathways and is involved in the regulation of various genes. It is listed in the OMIM database, a catalog of human genes and genetic disorders. The SKI gene…