Lysinuric protein intolerance (LPI) is a rare autosomal recessive genetic disorder caused by mutations in the SLC7A7 gene, which codes for the y+LAT-1 protein. This condition is characterized by impaired transport of lysine, arginine, and ornithine across the cell membrane,…
The ATP2A2 gene, also known as the CA2-ATPase gene, plays a crucial role in the normal functioning of sarcoendoplasmic reticulum calcium ATPase pumps. This gene is responsible for producing a protein that is essential for maintaining the balance of calcium…
The COL1A2 gene is a gene that encodes for the type I collagen alpha 2 chain. It is responsible for the assembly of collagen, a protein found in connective tissues. Changes in this gene can result in various conditions, including…
Weaver syndrome, also known as Weaver-Smith syndrome or Camptodactyly Syndrome, is a rare genetic condition associated with abnormal growth and intellectual disabilities. It is caused by mutations in the EZH2 or NSD1 genes, and is characterized by several distinct features.…
Bosma arhinia microphthalmia syndrome is a rare genetic condition that affects the development of the nose and eyes. Patients with this syndrome are born without a nose (arhinia) and have abnormally small eyes (microphthalmia). The exact causes of this condition…
Klippel-Trenaunay syndrome is a rare condition that affects the development of blood vessels, soft tissues, and bones. It is characterized by the abnormal overgrowth of these tissues in one area of the body. The exact cause of Klippel-Trenaunay syndrome is…
The SGCE gene, also known as the epsilon sarcoglycan gene, is a gene that plays a role in various health conditions. It is one of the genes listed in databases and references for genetic testing and research on neurological disorders.…
The MMADHC gene, also known as methylmalonic aciduria and homocystinuria type D, is a gene that encodes the MMADHC protein. This protein is involved in the metabolism of methylmalonic acid and cobalamin (vitamin B12) and regulates the levels of these…
Simpson-Golabi-Behmel syndrome (SGBS) is a rare genetic disorder characterized by distinctive facial features, overgrowth, and multiple congenital abnormalities. The frequency of SGBS is unknown, but it has been reported in both males and females. The condition is sometimes referred to…
The KHDC3L gene, also known as KHDC3L3, is a gene that has been found to be related to certain health conditions in women. It has been referenced in scientific articles and provides information on conditions such as recurrent hydatidiform moles.…