The FGFR3 gene, also known as fibroblast growth factor receptor 3, is a catalog of genetic changes that is responsible for a number of conditions. These conditions include different types of dwarfism, such as achondroplasia, hypochondroplasia, and thanatophoric dysplasia. Additionally,…
The EHMT1 gene is a crucial gene involved in the genetic condition known as Kleefstra syndrome. This gene, also referred to as ‘histone-lysine N-methyltransferase 1’, plays a significant role in the development of an individual’s genetic information. When a variant…
TIMM8A gene The TIMM8A gene, also known as the translocase of inner mitochondrial membrane 8 homolog A gene, is responsible for encoding a protein involved in the import of proteins into mitochondria. Mutations in this gene have been found to…
Caudal regression syndrome (CRS) is a rare condition characterized by the incomplete development of the lower spine. It is also known as sacral agenesis or sacral dysgenesis. CRS is thought to have a genetic component and is frequently associated with…
The Alpha-1 Antitrypsin Test is a diagnostic tool used to identify the presence of a specific mutation in the gene responsible for producing alpha-1 antitrypsin. This genetic mutation can affect the body’s ability to produce this important protein, which plays…
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…