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…
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…
3-methylglutaconyl-CoA hydratase deficiency is a rare genetic condition caused by mutations in the AUHM gene . This condition affects the body’s ability to break down certain proteins and can lead to a buildup of toxic substances in the blood and…
Aspartylglucosaminuria is a rare genetic condition that affects the growth and development of patients. It is caused by a deficiency in the gene responsible for producing the enzyme aspartylglycosaminuria. This deficiency leads to a buildup of the substrate aspartylglycosaminuria in…
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…
9q223 microdeletion is a rare genetic condition associated with a missing piece of genetic material on chromosome 9. This condition is also referred to as 9q223 deletion or 9q223 microdeletion syndrome. The specific genes affected by this deletion are not…
Genetic conditions 0-9 are a group of disorders caused by various genetic abnormalities. These conditions can affect different aspects of an individual’s health, including metabolism, development, and hormone production. One example of a genetic condition is 3-methylglutaconyl-coa dehydrogenase deficiency (3-MGCDH).…
The solute carrier family 29, member 3 (SLC29A3) gene is a transporter gene that plays a crucial role in cellular nucleoside homeostasis. It is associated with various diseases and conditions, including histiocytosis-lymphadenopathy plus syndrome and familial Rosai-Dorfman disease. Researchers have…
The PCCB gene is responsible for encoding the beta subunit of the enzyme propionyl-CoA carboxylase. This enzyme plays a crucial role in the breakdown of certain amino acids and fatty acids in the body. Mutations in the PCCB gene can…
Perry syndrome is a rare genetic condition that was first described in 1975 by Dr. H.G. Perry. It is characterized by a progressive failure of movement and difficulty with speech and swallowing. While the exact cause of Perry syndrome is…