Aicardi-Goutières syndrome is a rare genetic condition that affects the central nervous system. It was first described by Jean Aicardi and Françoise Goutières in 1984. The syndrome is characterized by the presence of inflammation in the brain and spinal cord,…
The KRT86 gene plays a crucial role in the health of our hair. It is responsible for encoding a protein called keratin, which is an essential component of the hair shaft. Mutations in this gene can lead to various hair…
The C9orf72 gene is a gene located on chromosome 9 that has been found to be associated with several conditions. It was first discovered in 2011 and since then has been the subject of extensive research and testing. The main…
Congenital bile acid synthesis defect type 1, also known as CBAS1, is a rare, genetic condition that affects the production of bile acids in the liver. Bile acids play a crucial role in the digestion and absorption of fats and…
Hypophosphatasia is a rare genetic disorder that occurs in infancy and can cause a range of additional health problems. It is caused by mutations in the ALPL gene, which leads to a deficiency of the enzyme alkaline phosphatase. This condition…
The GALE gene, also known as galactose-4-epimerase, is a genetic gene that plays a crucial role in the metabolism of galactose-4-epimerase. This gene is responsible for encoding the enzyme UDP-galactose-4-epimerase, which is involved in the conversion of UDP-galactose to UDP-glucose.…
The AMT gene is a genetic variant that plays a crucial role in the health and well-being of individuals. It is associated with several conditions, including hyperglycinemia, a metabolic disorder characterized by elevated levels of glycine in the blood. This…
CLN5 disease, also known as neuronal ceroid lipofuscinosis 5 (NCL5), is a rare genetic condition that causes progressive damage to nerve cells in the brain. It is one of the many forms of neuronal ceroid lipofuscinosis, a group of diseases…
The SCN10A gene, also known as sodium channel, voltage-gated, type X, alpha subunit, plays a crucial role in the transmission of electrical signals in the heart. It is responsible for the production of a protein that forms a sodium ion…
The KAT6B gene, also known as MOZ2, is a genetic gene that is related to various cancers and other diseases. It is listed in scientific databases such as OMIM, Genet, and PubMed, and has been the subject of numerous articles…