Sialuria is a rare genetic disorder that affects the central nervous system. It is characterized by a deficiency of the enzyme sialurialase, which leads to the accumulation of sialic acid in the body. This condition is inherited in an autosomal…
Beta-ureidopropionase deficiency is a genetic condition that is caused by mutations in the UPB1 gene. This gene provides instructions for making the beta-ureidopropionase enzyme, which plays a key role in the breakdown of certain molecules called pyrimidines. Pyrimidines are building…
The KANSL1 gene, also known as KAT8 regulatory NSL complex subunit 1 gene, is listed in various genetic databases and catalogs as a gene that undergoes changes or mutations in certain syndromes and diseases. It is specifically associated with Koolen-de…
The CFH gene, also known as complement factor H gene, plays a complex role in the body’s immune response and is associated with various diseases and conditions. It has been characterized as a nonfunctional gene in some individuals with age-related…
Intervertebral disc disease (IVDD) is a rare condition that affects the discs between the vertebrae of the spine. These discs, which are composed of a gel-like center surrounded by a tough outer layer, play a critical role in providing cushioning…
The IDH1 gene, also known as isocitrate dehydrogenase 1, is classified as a metabolic gene that codes for the enzyme isocitrate dehydrogenase 1. This gene is found in humans and is responsible for the conversion of isocitrate to alpha-ketoglutarate in…
The RPS6KA3 gene, also listed as CLIP2, is a gene that is associated with Coffin-Lowry syndrome. This gene has been studied extensively in scientific research and has been found to play a key role in the signaling pathway of the…
Pirfenidone Pirfenidone is used for the treatment of idiopathic pulmonary fibrosis (scarring of the lungs with an unknown cause). Pirfenidone is in a class of medications called pyridones. It works by blocking the action of a certain natural substance in…
The X chromosome is one of the two sex chromosomes in mammals, including humans. It was first identified by Italian physician Antonio Francesco Doni in 1649 and later named after an Italian mathematician, Fortunio Liceti, who referred to it as…
DNA, or deoxyribonucleic acid, is a genetic material that contains the instructions for the development and functioning of all living organisms. It is found in the nucleus of every cell in our body and carries the genetic information that determines…