Genes K
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…
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VKORC1 gene
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
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…
CARD9 gene
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,…
What You Need to Know About Blood Testing
When it comes to understanding your health, blood testing can provide valuable insights. Blood tests are often used to help diagnose and monitor various medical conditions. With a simple venipuncture, a needle is used to draw a small amount of…
PDGFRB 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…
COLQ gene
The COLQ gene plays a central role in the development and functioning of the nerve-muscle junction. Mutations in this gene can cause a congenital myasthenic syndrome, a group of genetic conditions that affect the transmission of signals between nerves and…
CACNA1C gene
The CACNA1C gene is a vital component of the cardiovascular system, as it is responsible for encoding the alpha-1C subunit of voltage-dependent L-type calcium channels. These channels play a significant role in controlling the flow of calcium ions into cells,…
TTC37 gene
The TTC37 gene, also known as Trichohepatoenteric syndrome (TCS), is associated with a rare genetic syndrome characterized by hair, liver, and intestinal abnormalities. TCS is caused by changes or variations in the TTC37 gene, which encodes a protein involved in…
PHGDH gene
The PHGDH gene, also known as phosphoglycerate dehydrogenase, is a genetic condition that affects the production of phosphoglycerate in the body. This gene is listed in various genetic databases, including OMIM and the Genetic Testing Registry, and has been the…