Category Genetics

The PLP1 gene is a gene that encodes for a protein called proteolipid protein 1 (PLP1). This gene is primarily active in cells that produce myelin, a substance that forms a protective covering around nerve fibers in the central and…

IRAK-4 deficiency is a rare genetic condition that is associated with immunodeficiency. It is caused by a mutation in the gene encoding the IRAK-4 protein. This protein plays a crucial role in the production of immune cells and their response…

The SLC4A1 gene, also known as the solute carrier family 4 member 1 gene, plays a crucial role in the bicarbonate transport system in the body. This gene is specifically associated with conditions such as hereditary spherocytosis and distal renal…

The GAA gene provides instructions for making an enzyme called acid alpha-glucosidase. This enzyme is involved in breaking down a complex sugar called glycogen into a simpler sugar called glucose. Glycogen is stored in cells and later broken down to…

The ADAR gene, also known as the Adenosine Deaminase Acting on RNA gene, is a gene that plays a critical role in the control of genetic functions in the human body. It is responsible for the production of proteins that…

Distal arthrogryposis type 1, also known as DAS1, is a rare genetic condition characterized by muscle weakness and joint stiffness in the hands. It is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance…

Corticosterone methyloxidase deficiency is a rare genetic condition characterized by the body’s inability to convert corticosterone to aldosterone, leading to high levels of corticosterone in the blood and low levels of aldosterone. This condition is also known as CMO deficiency…

Bladder cancer is a condition that affects the tissue of the bladder, a hollow organ in the lower abdomen. It is the sixth most common cancer diagnosed in the United States, with around 83,730 new cases expected to be diagnosed…

Genes are the basic units of heredity that carry information from one generation to the next. They are made up of segments of DNA, which is found in the nucleus of cells. However, not all genes are found in the…

Benign essential blepharospasm (BEB) is a rare condition characterized by involuntary contractions of the eyelid muscles. It is classified as a primary, focal dystonia, meaning that the symptoms are limited to a specific area of the body. The exact causes…