Expert

The CAPN3 gene, also known as calpain-3, is a genetic enzyme that plays a crucial role in muscle function. It is primarily expressed in skeletal muscle and is involved in the cleavage of different proteins. Mutations in the CAPN3 gene…

Alexander disease is a rare genetic disorder of the central nervous system. It is a glial disease named after Stewart Alexander, who first described it in 1949. The disease is characterized by the formation of abnormal deposits of a protein…

Mucolipidosis III alphabeta, also known as MLIII alphabeta, is a rare genetic disorder that causes progressive damage to various tissues and organs in the body. It is one of a group of diseases called mucolipidoses, which are characterized by the…

Glucose phosphate isomerase deficiency, also known as GPI deficiency, is a rare genetic disorder that affects the glucose-6-phosphate isomerase enzyme. This enzyme plays a crucial role in the glycolysis pathway, which is responsible for the breakdown of glucose and energy…

Giant axonal neuropathy (GAN) is a rare genetic disorder that affects the central nervous system. It is characterized by the progressive destruction of the axons, which are the long fibers that transmit signals between nerve cells. This condition is caused…

Poland Syndrome is a rare condition that affects the development of one side of the chest and hand. It is named after Sir Alfred Poland, a British surgeon who first described the condition in 1841. Poland Syndrome is characterized by…

When it comes to understanding human health and development, it is crucial to have accurate and reliable information about genetic variants. These variants are different versions of genes that may impact how our bodies function and our susceptibility to certain…

The CYP21A2 gene plays a crucial role in the production of hormones such as cortisol and aldosterone. Variants in this gene can cause deficiencies in these hormones, leading to a range of health disorders. Scientific research and clinical testing have…

The FLG gene, also known as the filaggrin gene, plays a crucial role in the development and maintenance of the epidermis, the outermost layer of the skin. Genetic mutations in this gene have been found to be associated with various…

The MN1 gene is a gene listed in various genetic databases and is also referred to as the “MN1 proto-oncogene, transcriptional regulator” and “MN1 oncogene”. It is located on chromosome 22 and plays a crucial role in various cellular processes.…