The PHKB gene, listed under the scientific names phosphorylase kinase, muscle isoform X-linked (MGC 9203, MGC 9221) and MGC9203, is responsible for the production of the phsophorylase kinase beta subunit enzyme. This gene plays a crucial role in glycogen storage…
Lactose intolerance is a condition that affects the ability to digest lactose, a sugar found in milk and other dairy products. It is caused by a deficiency of an enzyme called lactase, which is needed to break down lactose into…
The HBA1 gene, also known as alpha-1 globin gene, plays a crucial role in the synthesis of alpha chains, a component of hemoglobin. Hemoglobin is responsible for carrying oxygen throughout the body, making it essential for proper bodily functions. This…
Pyruvate dehydrogenase deficiency is a rare genetic condition that affects the body’s ability to convert pyruvate (a molecule derived from glucose) into energy. This deficiency is often inherited and can lead to developmental problems and neurological features. Pyruvate dehydrogenase deficiency…
Cole disease, also known as punctate palmoplantar keratoderma type III (PPKP3), is a rare genetic condition. It is characterized by punctate keratoderma, which presents as small, yellowish, and raised areas of thickened skin on the palms of the hands and…
Multiple sulfatase deficiency (MSD) is a rare genetic disorder that affects the normal function of sulfatase enzymes. The disease is caused by mutations in the genes that encode for these enzymes. When these mutations occur, the affected individual lacks functional…
N-acetylglutamate synthase deficiency, also known as NAGS deficiency, is a rare genetic condition that affects the urea cycle, a process that helps the body get rid of ammonia. This condition is caused by mutations in the N-acetylglutamate synthase gene, which…
Familial Cold Autoinflammatory Syndrome Type 2, also known as FCAS2, is a rare genetic condition characterized by inflammatory symptoms triggered by cold temperatures. It is one of several autoinflammatory diseases that affect the immune system’s regulation of inflammation and can…
Hypomagnesemia with secondary hypocalcemia, also known as combined hypomagnesemia and hypocalcemia, is a rare genetic condition that impairs the function of the kidneys’ convoluted tubules. This condition is associated with a variety of neurological and other diseases, including impaired renal…
The VHL gene, also known as the von Hippel-Lindau gene, is a target for clear cell renal cell carcinoma and is associated with other types of cancer. The VHL gene is located on chromosome 3 and changes in this gene…