The JAK3 gene is a genetic variant that is related to severe combined immunodeficiency (SCID). SCID is a rare genetic disorder that is characterized by a deficiency in the immune system, making individuals highly susceptible to infections. The JAK3 gene…
The SLC52A3 gene, also listed as C20orf54, is responsible for encoding a protein that is necessary for the transport of vitamin B2 (riboflavin) into cells. This gene is involved in several important physiological reactions, including the production of coenzymes that…
The DEPDC5 gene, also known as the Disheveled, Egl-10, and Pleckstrin domain-containing protein 5 gene, is a gene that has been found to be associated with various genetic disorders. One of the main areas of focus regarding this gene is…
Cerebro-facio-thoracic dysplasia (CFTD) is a rare genetic condition that affects the development of the brain, face, and chest. It is also known as cerebrofaciothoracic dysplasia. Individuals with CFTD have a range of physical and intellectual disabilities. The exact cause of…
Fumarase deficiency is a rare genetic condition that affects the body’s ability to convert fumarate to malate in the citric acid cycle. This impairment leads to a buildup of fumaric acid in the body, which can cause a range of…
The Genes K are a group of genes that are responsible for coding various proteins involved in cellular processes. One of the key proteins produced by these genes is the K subunit, which is a crucial component of many protein…
VKORC1 gene The VKORC1 gene, also known as VKORC1A, is a genetic variant that is related to the risk of blood clots. It encodes the vitamin K epoxide reductase, which is an enzyme that plays a crucial role in the…
DOLK-congenital disorder of glycosylation is a rare genetic disorder that affects the glycosylation process, which is essential for the proper functioning of proteins. The condition is caused by mutations in the DOLK gene. DOLK stands for dolichol kinase, which plays…
The CARD9 gene is a central gene in a pathway related to immune response against fungal infections. These infections, caused by Candida yeast and other fungal species, can lead to chronic and severe conditions in affected people. The CARD9 gene,…
The PDGFRB gene is a key factor in the development and function of various cell types in the human body. It has been extensively studied and its role in different conditions has been well-documented in scientific literature. One of the…