The POMC gene, also known as the proopiomelanocortin gene, is responsible for producing a protein called proopiomelanocortin (POMC). This protein is a precursor that is cleaved into various smaller peptides, including adrenocorticotropic hormone (ACTH) and beta-endorphin. These peptides play crucial…
If you suspect that you may have allergies, getting an allergy blood test can help determine the cause of your symptoms. Allergies occur when your immune system mistakenly identifies a harmless substance as a threat and mounts an immune response.…
Co-trimoxazole Co-trimoxazole is used to treat certain bacterial infections, such as pneumonia (a lung infection), bronchitis (infection of the tubes leading to the lungs), and infections of the urinary tract, ears, and intestines. It also is used to treat ‘travelers’…
Allan-Herndon-Dudley syndrome, also known as AHDS, is a rare genetic disorder that affects the metabolism of the triiodothyronine hormone. It is an X-linked condition caused by mutations in the SLC16A2 gene. This syndrome is characterized by severe intellectual disability, muscle…
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…