Expert

Expert

GSS gene

The GSS gene, also known as the glutathione synthetase gene, is responsible for encoding the enzyme glutathione synthetase. This enzyme plays a crucial role in the synthesis of glutathione, a compound that is involved in many important processes in the…

CTNND2 gene

The CTNND2 gene, also known as δ-catenin, is a gene that plays a crucial role in various biological processes. It is located on chromosome 5 and has been found to be associated with a wide spectrum of conditions and disorders,…

Heavy Metal Blood Test

When it comes to our health, we should always take care of our bodies. In today’s world, we are constantly exposed to various metals, which can have a detrimental effect on our well-being. Fortunately, there is a group of medical…

KRT14 gene

The KRT14 gene, also known as keratin 14, is a genetic variant that is associated with several dermatological conditions. It is one among the many keratin genes that are responsible for the synthesis of keratins, which are proteins that make…

MYH3 gene

The MYH3 gene provides instructions for making a protein called myosin-3. This protein is part of a family of proteins called myosins, which are involved in the movement of muscles. MYH3 is mainly active in skeletal muscles, which are the…

Familial restrictive cardiomyopathy

Familial restrictive cardiomyopathy (RCM) is a rare genetic condition that affects the heart’s ability to contract and relax properly, leading to impaired heart function. Patients with familial RCM often experience symptoms such as fatigue, shortness of breath, and swelling in…

SKI gene

The SKI gene is a gene that plays a role in signaling pathways and is involved in the regulation of various genes. It is listed in the OMIM database, a catalog of human genes and genetic disorders. The SKI gene…

Kindler epidermolysis bullosa

Kindler Epidermolysis Bullosa is a rare genetic condition that affects the skin. It is characterized by the formation of blisters and erosions on the skin, particularly in areas exposed to friction or trauma. The frequency of this condition is not…

Sargramostim

Sargramostim Sargramostin is used to decrease the chance of infection in people who have acute myelogenous leukemia (AML; a type of cancer of the white blood cells) and are receiving chemotherapy medications that may decrease the number of neutrophils (a…

Mitochondrial trifunctional protein deficiency

Mitochondrial trifunctional protein deficiency is a rare genetic condition that affects the functions of the mitochondria, the energy-producing structures within cells. This condition is caused by mutations in the HADHA or HADHB genes, which provide instructions for making the mitochondrial…