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 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…
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 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…
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…
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…
Genes B are a group of genes that play a critical role in various biological processes. These genes are involved in the development and function of different organs and tissues in the body. They have been extensively studied and are…
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…
The COL1A1 gene is responsible for encoding the alpha 1 chain of type I collagen, which is a major component of connective tissue found throughout the body. Mutations in this gene can lead to a variety of conditions, including osteogenesis…
MRAP gene, also known as Melanocortin 2 Receptor Accessory Protein gene, is an essential gene involved in the regulation of adrenal gland activity and glucocorticoid production. It plays a crucial role in maintaining hormonal balance and proper functioning of the…