The ADA2 gene, also known as adenosine deaminase 2, is a critical genetic variant involved in the deficiency of adenosine deaminase 2. This deficiency can lead to a reduction in the gene’s function and result in various health conditions and…
The ADGRG1 gene, also known as adhesion G protein-coupled receptor G1, is a genetic receptor found within the cortex of neurons. It regulates the growth and adhesion of cells and is involved in various genetic conditions and diseases. Scientific articles…
CHOPS syndrome, also known as AFF4-related disorder, is a rare genetic condition that affects multiple systems in the body. It is named after the Affection for a Deemed Company (AFF) gene, which is associated with this condition. According to scientific…
The FGF3 gene, also known as fibroblast growth factor 3, is a gene that plays a crucial role in the development and function of the inner ear. It is involved in the regulation of cell growth, differentiation, and survival during…
The ETHE1 gene is a variant associated with Leigh syndrome, a genetic disorder characterized by progressive neurologic changes, including movement disorders, respiratory abnormalities, and muscle weakness. Testing for ETHE1 gene variants can be done through genetic tests that analyze the…
The GNPAT gene, also known as DHAPAT, is related to various conditions such as rhizomelic chondrodysplasia punctata. This gene is responsible for the production of the enzyme GNPAT, which plays a significant role in lipid metabolism. Testing for changes in…
The MIR17HG gene is located in the central cluster of related genes on chromosome 13. It has been associated with overgrowth and several listed diseases and conditions. Changes or variants in the miRNAs of the MIR17HG gene have been linked…
The DPYD gene, also known as dihydropyrimidine dehydrogenase, is responsible for the production of an enzyme that plays a crucial role in the metabolism of pyrimidines – a type of organic compound. This gene is located on chromosome 1p22.2 and…
Arginase deficiency is a rare genetic condition caused by mutations in the ARG1 gene. It is inherited in an autosomal recessive manner. Arginase is an enzyme that helps in the breakdown of arginine, an amino acid. The deficiency of this…
Pompe disease, also known as glycogen storage disease type II, is a rare genetic condition with a frequency of about 1 in every 40,000 births. This condition is named after the Dutch pathologist J.C. Pompe who first described it in…