Familial partial lipodystrophy is a rare genetic condition that is characterized by abnormal distribution of fats in various parts of the body. This condition is associated with a number of serious medical problems, including liver disease and other metabolic abnormalities.…
The CASK gene is a gene that is associated with intellectual disability. It is listed in various databases and scientific articles as being related to intellectual disability and other genetic conditions. The gene provides instructions for making a protein that…
The FKRP gene, also known as the Fukutin Related Protein gene, is a gene that plays a crucial role in the function of muscles. It is particularly important for the health of skeletal muscles, which are responsible for voluntary movement.…
The SCARB2 gene, also known as scavenger receptor class B, member 2, is involved in lysosomal function. This gene codes for a protein-2 receptor that plays a crucial role in the transport of lysosomal enzymes to the lysosome. Lysosomes are…
The PROS1 gene encodes for the protein S, which is an effective cofactor for the function of other proteins involved in blood clotting. Protein S is mainly synthesized in the liver and plays a significant role in inhibiting blood clot…
Warsaw Breakage Syndrome is a rare genetic condition that affects the ability of cells to repair DNA breaks. This syndrome was first described in 2014 by Sliwinska et al. in an article published in the scientific journal “Epigenetics & Chromatin”.…
The ERCC3 gene is one of the many genes that play a crucial role in DNA repair. Specifically, it is involved in nucleotide excision repair (NER), a protein complex that repairs damaged DNA. The ERCC3 gene is located on chromosome…
Ulcerative colitis is a chronic inflammatory disease of the colon, which is the central part of the intestine. It is one of the two major forms of inflammatory bowel disease, the other being Crohn’s disease. Ulcerative colitis is characterized by…
The FTCD gene, also known as formiminotransferase cyclodeaminase, is a genetic enzyme that plays a crucial role in various biological functions. Mutations or changes in this gene can lead to FTCD deficiency, a rare genetic disorder that affects the body’s…
The LGI1 gene, also known as epitempin, is a gene that is listed on the Online Mendelian Inheritance in Man (OMIM) catalog. It is a health genet that has been linked to several diseases and conditions, including auditory epilepsy. Scientific…