The COLQ gene plays a central role in the development and functioning of the nerve-muscle junction. Mutations in this gene can cause a congenital myasthenic syndrome, a group of genetic conditions that affect the transmission of signals between nerves and…
The CACNA1C gene is a vital component of the cardiovascular system, as it is responsible for encoding the alpha-1C subunit of voltage-dependent L-type calcium channels. These channels play a significant role in controlling the flow of calcium ions into cells,…
The TTC37 gene, also known as Trichohepatoenteric syndrome (TCS), is associated with a rare genetic syndrome characterized by hair, liver, and intestinal abnormalities. TCS is caused by changes or variations in the TTC37 gene, which encodes a protein involved in…
The PHGDH gene, also known as phosphoglycerate dehydrogenase, is a genetic condition that affects the production of phosphoglycerate in the body. This gene is listed in various genetic databases, including OMIM and the Genetic Testing Registry, and has been the…
The PKLR gene, also known as the pyruvate kinase liver and red blood cell (PKLR) gene, is a genetic molecule that plays a crucial role in the production of pyruvate in cells. Pyruvate kinase deficiency is a condition that results…
The NAGLU gene, also known as N-acetylglucosaminidase alpha, is responsible for encoding an enzyme that plays a crucial role in the breakdown of glycosaminoglycans. Variants in this gene have been found to be associated with various genetic conditions, including Sanfilippo…
The EDAR gene is a gene that has been extensively studied and researched in the field of genetics. It is one of the genes that has been identified and catalogued in several databases and registries that store information about genetic…
The MMAA gene, also known as methylmalonic aciduria (MMA) gene, is related to the mutase methylmalonic acidemia. It is listed in the OMIM (Online Mendelian Inheritance in Man) registry and can be found on Pubmed, Health and other scientific databases.…
Congenital leptin deficiency is a rare genetic condition associated with severe early-onset obesity. This condition is caused by mutations in the genes that encode for leptin, a hormone that plays a crucial role in regulating appetite and body weight. Patients…
The MMUT gene, also known as the Methylmalonyl-CoA Mutase gene, is a gene that encodes the enzyme methylmalonyl-CoA mutase. This gene is responsible for the conversion of methylmalonyl-CoA to succinyl-CoA, a crucial step in the breakdown of certain amino acids…