The F2 gene, also known as the prothrombin gene, is a gene that provides instructions for making prothrombin, a protein essential for blood clotting. Mutations in the F2 gene can lead to a genetic condition called prothrombin deficiency, which is…
Buschke-Ollendorff syndrome (BOS), also called lenticularis disseminata, is a rare genetic condition that affects the skin and bones. It was first described by Wordsworth in 1962 and later named after Buschke and Ollendorff, who reported additional cases of the condition.…
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare genetic condition characterized by neurological symptoms such as movement difficulties. It is caused by mutations in the C19orf12 gene, which is responsible for encoding a protein involved in mitochondrial membrane function. MPAN…
The CFI gene, also known as Complement factor I, is a genetic resource that is listed in various databases and resources for the study of genetic disorders. It plays a crucial role in the macular degeneration and other related disorders.…
The UBA1 gene is a scientific term for the Ubiquitin-Like Modifier Activating Enzyme 1 gene. It is an X-linked gene that is responsible for coding a protein involved in the ubiquitin-like (UBL) protein conjugation pathway. This pathway plays a crucial…
Van der Woude syndrome is a rare genetic condition that affects the development of the face. It is named after David P. van der Woude, who first described the syndrome in 1954. The syndrome is characterized by the presence of…
The KCNA1 gene is responsible for encoding a protein known as a voltage-gated potassium channel. This protein plays a critical role in the communication between cells, specifically in the nervous system. KCNA1 gene mutations and variants have been identified as…
The DSC2 gene, also known as desmocollin-2, is a gene responsible for producing a protein called desmocollin-2. This protein is found in tissues like the heart and skin, where it plays a crucial role in the structure and function of…
The MIR146A gene, also called microRNA 146a, is a gene that is involved in regulating gene expression. It is located on the minus strand of chromosome 5 in the central region, known as 5q33.3. Mutations or changes in this gene…
Hereditary spherocytosis is a rare genetic condition that affects the shape and function of red blood cells. It is typically inherited in an autosomal dominant pattern, meaning that individuals with one copy of the mutated gene can pass the condition…