Category Genetics

The GP1BA gene encodes the glycoprotein Ib alpha (GPIbα), which is a protein that is expressed on the surface of platelets. It forms a complex with other proteins, known as the GPIb-IX-V complex, and is involved in the binding of…

Trimethylaminuria is a rare metabolic disorder caused by mutations in the FMO3 gene. It is also known as fish-odor syndrome, as it results in a strong, unpleasant body odor resembling that of rotten fish. This odor is due to the…

Proteus syndrome is a rare genetic disorder that is associated with the overgrowth of various tissues in the body. It is characterized by the rapid and unrestricted proliferation of cells, leading to abnormal growth in multiple parts of the body.…

Prothrombin thrombophilia, also called prothrombin gene mutation, is a rare genetic condition that affects the clotting factors in the blood. It is associated with an increased risk of developing blood clots, particularly in the veins. This condition is caused by…

TBX1 is a genetic gene that is involved in the development of various conditions and diseases. It is also known by other names such as T-box 1 gene and 22q11.21 deletion syndrome. The gene is listed in various genetic databases…

The MKRN3 gene, also known as the makorin ring finger protein 3 gene, is a protein-coding gene that plays a crucial role in the development and regulation of puberty. It is located on chromosome 15 in humans and is thought…

The CRB1 gene is a protein-coding gene that plays a crucial role in the retina. It is part of a complex network of genes and proteins involved in the genetic and functional regulation of retinal development and maintenance. Mutations in…

The RPS10 gene is a gene that is found in the human genome. It plays a crucial role in the production of ribosomes, which are the central proteins responsible for protein synthesis. Mutations in the RPS10 gene have been linked…

Congenital hyperinsulinism (CHI) is a rare condition that affects newborns, resulting in high levels of insulin in the bloodstream. It is caused by mutations in genes that regulate insulin production in the pancreas. These mutated genes lead to overactive insulin…

The GNPTAB gene, also known as the alpha/beta-glucosaminidase, encodes an enzyme that plays a crucial role in the breakdown of complex molecules in the cell. This gene is listed in various catalogues and databases related to genetic health conditions and…