Category Genetics

The ARHGAP31 gene is a widely studied gene that has been implicated in a variety of diseases. It is listed in the OMIM database, a registry of human genes and genetic disorders. The gene is also referenced in numerous scientific…

The MTR gene, also known as the methyltransferase gene, is responsible for producing an enzyme called methionine synthase. This enzyme plays a crucial role in the metabolism of an amino acid called methionine. Mutations in the MTR gene can lead…

The SLC35A2 gene is a genetic variant that has been associated with various diseases and conditions. It is also known by other names such as SLC35A2-Congenital Disorders of Glycosylation (SLC35A2-CDG) and SLC35A2-congenital epileptic diseases. There have been numerous articles and…

The THPO gene, also known as thrombopoietin, is a key gene involved in the production of platelets, which play a crucial role in blood clotting. The information about this gene is listed in various genetic databases such as OMIM and…

The ADAMTS10 gene is a genetic variant that has been identified in individuals with Weill-Marchesani syndrome. Weill-Marchesani syndrome is a rare genetic disorder characterized by short stature, microspherophakia (small lenses), and other skeletal and ocular abnormalities. The ADAMTS10 gene is…

The MCCC2 gene, also known by the names 3-methylcrotonyl-coa carboxylase 2 and MCCB, is a gene that encodes the enzyme 3-methylglutaconyl-coa carboxylase, which is responsible for the breakdown of a compound called 3-methylcrotonyl-coa. Variants in this gene can cause a…

Neuromyelitis optica (NMO), also known as Devic’s disease, is a rare autoimmune disorder that primarily affects the optic nerves and spinal cord. It is frequently associated with other disorders such as multiple sclerosis, but it has distinct clinical features and…

Chromosome 2 is one of the 23 pairs of chromosomes in humans. It is thought to play a role in a variety of conditions and disorders, including malignancies and neurodevelopmental disorders. Research references related to Chromosome 2 can be found…

The EXT2 gene is a genetic element that is involved in the development of multiple diseases and conditions related to bone growth and development. It is one of the genes associated with hereditary multiple osteochondromas, also known as hereditary multiple…

Combined pituitary hormone deficiency, also known as hypopituitarism, is a rare condition that affects the production of hormones in the pituitary gland. The pituitary gland is located at the base of the brain, in the neck region, and is responsible…