The LMNA gene plays a crucial role in the development of various conditions and abnormalities. Variants in this gene can lead to the production of abnormal proteins, which can result in restrictive movement, musculoskeletal abnormalities, and various other health issues.…
Graves’ disease is the most common cause of hyperthyroidism, a condition in which the thyroid glands produce excessive thyroid hormones. It is an autoimmune disorder that occurs when the immune system mistakenly attacks the thyroid gland, causing it to overproduce…
The PNPLA6 gene, also known as Patatin-like phospholipase domain-containing protein 6, encodes an enzyme called neuropathy target esterase (NTE). This gene is listed in various databases, including the Online Mendelian Inheritance in Man (OMIM) and the Human Genome Variation Society…
Pulmonary arterial hypertension (PAH) is a rare, progressive condition characterized by high blood pressure in the arteries of the lungs. It is a primary type of pulmonary hypertension, meaning that it is not caused by another underlying condition. Scientific research…
The KRT3 gene is a gene that is associated with various diseases. It is one of the many genes listed in the OMIM database, which provides information on genetic diseases and other health conditions. Mutations in the KRT3 gene have…
In the field of genetics, there are numerous genetic conditions that have been identified and studied. One such condition is a disease that is inherited in a dominant manner and is known as juvenile-onset atresia. This condition is characterized by…
The PACS1 gene (Protein Associated with CAKinase Signalosome 1) is a gene that encodes the PACS1 protein. This protein is involved in the regulation of intracellular protein transport and signaling pathways. Mutations in the PACS1 gene have been linked to…
Kuskokwim syndrome is a rare genetic condition that affects collagen production. It is named after the Yupik people of the Kuskokwim River region in Alaska, where the syndrome was first identified. This syndrome is classified as a form of Ehlers-Danlos…
The SEC23B gene is a significant gene associated with dyserythropoietic anemia syndromes. Mutations in this gene can lead to various health conditions, including congenital dyserythropoietic anemia type II (CDA II), also known as SEC23B-CDAN2 syndrome. These syndromes are characterized by…
The FOXP3 gene is a vital gene in the regulation of immune system function. It plays a crucial role in maintaining the balance between immune activation and tolerance to self-antigens. Mutations in the FOXP3 gene can result in various diseases…