Category Genetics

Porphyria is a group of rare genetic disorders caused by mutations in the genes responsible for the production of heme, a component of hemoglobin that is essential for the function of red blood cells. These disorders are inherited in an…

The PPOX gene, also known as the protoporphyrinogen oxidase gene, is responsible for encoding the enzyme protoporphyrinogen oxidase. This enzyme is involved in the heme biosynthesis pathway, which is essential for the production of hemoglobin, myoglobin, and other heme-containing proteins…

The NNT gene is a genetic variant that has been found to cause deficiency in the enzyme NAD(P)H:quinone oxidoreductase 1 (NQO1). This deficiency can lead to various health conditions and diseases. Studies have shown that changes in the NNT gene…

The CCND2 gene is a genetic sequence that encodes the protein cyclin D2. This protein plays a key role in the regulation of cell cycle progression. Mutations in the CCND2 gene have been associated with various diseases and conditions, including…

Direct-to-consumer genetic testing is a type of testing that allows individuals to learn more about their genetic makeup and potential risks for certain diseases. This type of testing is becoming increasingly popular, as it provides individuals with the opportunity to…

The TSC1 gene, also known as the tuberous sclerosis complex 1 gene, is a certain gene that is responsible for causing tuberous sclerosis. Tuberous sclerosis is a group of genetic disorders that affect the growth of tumors in various parts…

Genetic testing is a powerful tool that allows individuals to learn more about their genetic makeup and the potential risks they may face in terms of their health. However, it is important to be aware of the risks and limitations…

Prekallikrein deficiency is a rare genetic condition that affects the body’s ability to form blood clots, leading to increased bleeding and clotting problems. It is inherited in an autosomal recessive manner, which means that both parents must carry a mutated…

The TNFRSF13B gene encodes a protein called transmembrane activator and cyclophilin ligand interactor (TACI). TACI is part of the tumor necrosis factor receptor superfamily and is involved in the regulation of the immune system. Mutations in the TNFRSF13B gene have…

Mabry syndrome, also known as hyperphosphatasia with facial dysmorphism syndrome, is a rare genetic disorder characterized by facial dysmorphism and elevated levels of alkaline phosphatase. The syndrome is caused by mutations in the PIGO gene, which is responsible for producing…