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…
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…
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.…
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 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…
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…
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 MC2R gene, also known as the adrenal gland-specific receptor or ACTH receptor, is a gene that plays a crucial role in the production of glucocorticoid hormones. This gene is found in humans and is related to various health conditions…
The AUH gene, also known as the 3-methylglutaconyl-CoA hydratase gene, is a gene that encodes a protein involved in the breakdown of certain amino acids. Mutations in this gene can lead to a condition called 3-methylglutaconyl-CoA hydratase deficiency, which is…
Alpha-mannosidosis is a rare genetic condition that is characterized by the deficiency of the enzyme alpha-mannosidase. This enzyme is responsible for breaking down complex sugar molecules in the body. Without enough of this enzyme, sugars accumulate in various tissues and…