PKLR gene
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…
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NAGLU gene
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…
EDAR gene
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…
MMAA gene
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
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…
MMUT gene
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…
DCXR gene
The DCXR gene, also known as the dicarbonyl/xylose reductase gene, is listed in various scientific databases as an essential gene involved in important cellular processes. This gene encodes proteins involved in the carbonyl reduction reaction, which plays a crucial role…
Stormorken syndrome
Stormorken syndrome is a rare genetic condition that affects multiple body systems. It was first described in the scientific literature in 1993 by Stormorken et al. This syndrome is also known by several other names, including Stormorken–Thrombocytopenia Syndrome, Hypertyrosinemia-Thrombocytopenia Syndrome,…
SBDS gene
The SBDS gene is listed in various scientific resources and databases like OMIM (Online Mendelian Inheritance in Man) and PubMed. It is an assembly of genetic information related to the SBDS gene, which encodes the SBDS protein. This protein plays…
TPI1 gene
The TPI1 gene encodes an enzyme called triosephosphate isomerase. This enzyme plays a crucial role in glycolysis, which is the process in which glucose is broken down to produce energy in the form of ATP. Mutations in the TPI1 gene…