The CXCR4 gene encodes a protein known as the C-X-C chemokine receptor type 4. This membrane receptor plays a crucial role in many physiological processes, including immune response, cell migration, and hematopoiesis. It is specifically involved in the migration and…
The CTSD gene, also known as cathepsin D, is a gene that is responsible for the production of the cathepsin D enzyme. This enzyme plays a crucial role in several biological processes, including protein breakdown and cellular pathway regulation. Scientific…
The SLC30A10 gene, also known as the zinc transporter 10 (ZNT10) gene, is listed as one of the important genes to be tested for hypermanganesemia. Hypermanganesemia is a condition caused by excess manganese in the body, which can lead to…
Proteins play a crucial role in the functioning of cells and organisms, performing a wide variety of tasks such as catalyzing chemical reactions, transporting molecules, and providing structural support. But how are these proteins produced? The answer lies in the…
The PQBP1 (polyglutamine binding protein 1) gene, also known as PQBP-1, is a gene that plays a critical role in the development and function of the central nervous system. It is located on the X chromosome and encodes a protein…
The TUBB3 gene, also known as the tubulin beta-3 class III gene, codes for a protein called beta-3 tubulin. This protein is a component of microtubules, which are structures involved in various cellular functions. The TUBB3 gene has been linked…
Junctional epidermolysis bullosa, also known as JEB, is a rare genetic condition that affects the formation of skin and other tissues. It is caused by mutations in certain genes. JEB can be inherited in an autosomal recessive manner, meaning that…
Prothrombin deficiency is a rare genetic condition that affects the body’s ability to produce enough prothrombin, a protein involved in the clotting process. It is also known as hypoprothrombinemia and inherited prothrombin deficiency. Prothrombin deficiency can lead to a higher…
The Wiskott-Aldrich Syndrome (WAS) is a rare genetic disorder characterized by immune system impairment. It is also known as the X-linked syndrome, as it primarily affects males and is caused by changes in a gene called Wiskott-Aldrich Syndrome Protein (WASP).…
Chromosome 17 is one of the 23 pairs of human chromosomes. It is classified as a submetacentric chromosome, meaning that its centromere is not located in the middle. This chromosome contains around 2.5 percent of the genetic materials in our…