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 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,…
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…
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…
MECP2 duplication syndrome is a rare genetic disorder that is caused by an extra copy of the MECP2 gene on the X chromosome. It is mostly seen in males, as they only have one X chromosome. This condition is associated…
Encephalocraniocutaneous lipomatosis (ECCL) is a very rare genetic condition that affects multiple parts of the body, including the brain, skull, and skin. It is also known as Haberland syndrome, after the German neurologist Hans Haberland, who first described it in…
The 1q211 microduplication is a rare genetic condition that is associated with the duplication of a specific region on chromosome 1. This condition is characterized by a range of signs and symptoms that can vary widely between affected individuals. While…
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare genetic disease that affects individuals and their families. It is characterized by the development of leiomyomas, which are benign tumors that can appear in the skin and uterus. In some…
Glucose-galactose malabsorption is a congenital genetic condition associated with the inability to absorb glucose and galactose, two types of sugars, in the small intestinal tract. This rare disorder affects the transport proteins responsible for moving glucose and galactose into the…
The MT-ND5 gene is a mitochondrial gene that encodes a subunit of NADH-ubiquinone oxidoreductase, which is also known as complex I in the electron transport chain. This gene plays a crucial role in the production of ATP, the main source…