Hereditary antithrombin deficiency is a rare genetic condition that causes an increased risk of blood clots. It is caused by mutations in the SERPINC1 gene, which codes for the antithrombin protein. Antithrombin is a natural anticoagulant in the bloodstream, and…
The SLC17A5 gene, also known as sialin, is a gene that encodes a protein involved in the transport of sialic acid. Sialic acid plays important roles in various biological processes, including cell adhesion, cell signaling, and immune responses. Mutations in…
The RPS24 gene is one of the many genes involved in the functioning of the ribosome, a central molecular complex responsible for protein synthesis. Mutations in this gene have been found to be associated with certain blood disorders, such as…
The TGFB3 gene is responsible for encoding a protein called Transforming Growth Factor Beta 3 (TGFB3). This protein plays a crucial role in various physiological processes throughout the body, including growth and development, cell differentiation, and tissue repair. Mutations in…
The POFUT1 gene is responsible for the production of a protein called Protein O-fucosyltransferase 1. Genes are sequences of DNA that contain the instructions for building proteins, which are essential for various biological processes in the body. Protein O-fucosyltransferase 1…
The PLP1 gene is a gene that encodes for a protein called proteolipid protein 1 (PLP1). This gene is primarily active in cells that produce myelin, a substance that forms a protective covering around nerve fibers in the central and…
The SLC4A1 gene, also known as the solute carrier family 4 member 1 gene, plays a crucial role in the bicarbonate transport system in the body. This gene is specifically associated with conditions such as hereditary spherocytosis and distal renal…
IRAK-4 deficiency is a rare genetic condition that is associated with immunodeficiency. It is caused by a mutation in the gene encoding the IRAK-4 protein. This protein plays a crucial role in the production of immune cells and their response…
The ADAR gene, also known as the Adenosine Deaminase Acting on RNA gene, is a gene that plays a critical role in the control of genetic functions in the human body. It is responsible for the production of proteins that…
The GAA gene provides instructions for making an enzyme called acid alpha-glucosidase. This enzyme is involved in breaking down a complex sugar called glycogen into a simpler sugar called glucose. Glycogen is stored in cells and later broken down to…