Paget disease of bone, also known as osteitis deformans, is a rare genetic disorder that affects the bones. It was first described by Sir James Paget in the 19th century, and since then, extensive research and scientific studies have been…
The TGFB1 gene, encoding the protein Transforming Growth Factor beta 1 (TGFβ-1), is a well-studied gene with significant implications in various health conditions. It is known to have an active role in regulating cell growth and proliferation, particularly in pulmonary…
The SUCLA2 gene is a gene associated with various health conditions and syndromes. It is listed in genetic databases as a gene that can cause diseases and is often used in genetic testing. This gene is specifically associated with succinate-CoA…
The MTTP gene, also known as the microsomal triglyceride transfer protein gene, is a gene that is related to genetic disorders affecting lipid metabolism. Mutations in this gene can lead to impaired absorption and transport of triglycerides and fat-soluble vitamins,…
The ZIC2 gene, also known as Zic family member 2, is a gene that plays a critical role in embryonic development. It is a member of the ZIC family of transcription factors, which are involved in regulating gene expression. Mutations…
The HSPB1 gene encodes a small heat-shock protein, also known as HSP27. Heat-shock proteins play an essential role in cellular health by protecting cells from damage and promoting their survival under conditions of stress. This gene is listed in the…
The MT-CYB gene, also known as the mitochondrial cytochrome b gene, is a gene that codes for the cytochrome b protein. This protein is a part of the complex III in the mitochondrial respiratory chain. The MT-CYB gene is located…
Leydig Cell Hypoplasia (LCH) is a rare genetic condition that affects males. It is caused by recessive gene mutations, which result in the underdevelopment of Leydig cells, the hormone-producing cells in the testes. This condition is associated with a lack…
Succinic semialdehyde dehydrogenase deficiency (SSADH) is a rare genetic condition that affects the metabolism of the neurotransmitter gamma-hydroxybutyric acid (GHB). This condition is caused by mutations in the ALDH5A1 gene, which encodes an enzyme called succinic semialdehyde dehydrogenase. SSADH deficiency…
The GBA gene, also known as the glucocerebrosidase gene, is responsible for producing an enzyme called beta-glucosidase. This enzyme plays a crucial role in breaking down a fatty substance called glucocerebroside. Genetic changes in the GBA gene can lead to…