Category Genetics

The TAP1 gene, also known as the Transporter Associated with Antigen Processing 1 gene, is a genetic variant that is related to a number of diseases and conditions. The gene is part of a complex that is involved in processing…

The F12 gene is responsible for coding the coagulation factor XII, which plays a crucial role in the blood clotting cascade. This gene is located on chromosome 5 and is involved in the production of a protein that is essential…

Kawasaki disease is a rare condition that mainly affects children under the age of 5. It is characterized by inflammation of the blood vessels throughout the body and can lead to serious complications if not treated promptly. This article provides…

Hereditary fructose intolerance (HFI) is a rare autosomal recessive genetic condition that affects individuals who lack the enzyme aldolase B. This enzyme is responsible for breaking down fructose-1-phosphate in the body. As a result, individuals with HFI are unable to…

OMIM: This article discusses a rare condition called Autosomal Dominant Cerebellar Ataxia Deafness and Narcolepsy. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of human genes and genetic disorders. It provides information and resources for scientific research,…

The AGTR1 gene, also known as the angiotensin II receptor type 1 gene, is a gene that codes for a protein called angiotensin II receptor type 1. This protein is a receptor for angiotensin II, a hormone that regulates blood…

Tay-Sachs disease Tay-Sachs disease, also known as GM2 gangliosidosis, is a rare genetic condition that affects the nervous system. It is one of several forms of lysosomal storage diseases caused by the loss of function of certain enzymes. Tay-Sachs disease…

Poikiloderma with neutropenia is a small, rare genetic condition that affects the skin and blood. Neutropenia is a condition characterized by a low number of neutrophils, a type of white blood cell in the body. This condition is inherited in…

Cyclic Vomiting Syndrome (CVS) is a rare disorder characterized by episodes of severe vomiting and nausea. This condition predominantly affects children, but it can also persist into adulthood. The exact cause of CVS remains unknown, but researchers believe that it…

The AVP gene, also known as the arginine vasopressin gene, encodes the arginine vasopressin hormone. This hormone plays a crucial role in regulating water balance in the body. It is produced by the neurohypophysis and acts on the kidney to…