Category Genetics

KBG syndrome, also known as KBG syndrome, is a rare genetic disorder caused by mutations in the KBG gene. The KBG gene provides instructions for making a protein that is involved in various functions in the body. Patients with KBG…

The NFKBIA gene encodes a protein called nuclear factor kappa-B inhibitor alpha (NF-κBIA), which is involved in the regulation of immune response and inflammation. This gene is expressed in various immune tissues and plays a critical role in controlling the…

Pendred syndrome is a rare genetic condition that is typically associated with hearing loss and thyroid problems. It is named after Vaughan Pendred, the British physician who first described the syndrome in 1896. Pendred syndrome is characterized by the impaired…

In recent years, direct-to-consumer genetic testing has become more accessible and affordable. This type of testing allows individuals to learn more about their genome and discover potential risks for certain genetic conditions. However, one question that often arises is whether…

The NIPBL gene is an essential component of the cohesin complex, which plays a crucial role in the regulation of gene expression and the maintenance of genome stability. Mutations in the NIPBL gene have been linked to a rare genetic…

The ABCB11 gene, also known as the bile salt export pump (BSEP) gene, is responsible for the production and secretion of bile salts. Bile salts play a crucial role in the digestion and absorption of fats in the body. Changes…

The KCNQ3 gene is a crucial component in the functioning of the nervous system and is related to various health conditions. This gene is listed in scientific databases such as OMIM and PubMed, which provide valuable information on genes and…

The F8 gene, also known as the factor VIII gene, is a gene that provides instructions for making a protein called coagulation factor VIII. This protein plays a crucial role in the blood clotting process, helping to stop bleeding by…

The OXCT1 gene encodes the mitochondrial enzyme 3-oxoacid CoA-transferase 1, also known as succinyl-CoA:3-ketoacid CoA-transferase (SCOT). This enzyme is responsible for the final step in the production of ketone bodies, which are important for energy production during periods of fasting…

Fish-eye disease is a rare genetic condition caused by mutations in the LCAT gene. This gene encodes an enzyme called lecithin-cholesterol acyltransferase, which plays a key role in the metabolism of cholesterol. Mutations in the LCAT gene can lead to…