The PIK3R2 gene, also known as phosphoinositide-3-kinase regulatory subunit 2, is a gene that encodes a protein involved in the PI3K-Akt-mTOR signaling pathway. This pathway plays a crucial role in cell growth, proliferation, and survival. Mutations in the PIK3R2 gene…
Alpha thalassemia X-linked intellectual disability (ATRX) syndrome is a rare genetic condition that affects males. It is characterized by intellectual disability and several physical abnormalities. Individuals with ATRX syndrome often have mutations in the ATRX gene, located on the X…
The SPR gene, also known as sepiapterin reductase gene, is responsible for the production of the sepiapterin reductase enzyme. Mutations in this gene can lead to a deficiency in the enzyme, resulting in various dopa-responsive conditions. Dopa-responsive conditions are a…
Corticosteroid-binding globulin (CBG) deficiency is a genetic condition that causes a severe decrease in the production of CBG, a globulin that binds to cortisol, the stress hormone. CBG is produced in liver tissues and is associated with the transportation and…
Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare genetic condition that affects the peripheral nerves. It is characterized by episodes of tingling, numbness, and weakness in the limbs, which are typically triggered by activities that put pressure…
The CLCNKA gene is responsible for encoding a protein known as the chloride channel, voltage-sensitive Ka. This gene plays a significant role in the reabsorption of chloride ions in the kidneys, regulating the levels of salt and water in the…
Rubinstein-Taybi Syndrome is a rare genetic condition that is inherited in an autosomal dominant pattern, meaning that a person with this syndrome has a 50% chance of passing it on to their children. It is characterized by a variety of…
The COL8A2 gene is a variant of the COL8A2 gene, which is one of the genes responsible for corneal endothelial dystrophy. Endothelial dystrophy is a genetic condition that affects the innermost layer of the cornea, called the endothelium. This gene…
The SEPTIN9 gene, also known as septin-9, is a critical gene involved in various biological processes. This gene belongs to a family of genes called septins, which are highly conserved in eukaryotes. Septins are a group of GTP-binding proteins that…
The VPS13A gene is a genetic sequence that is associated with the neurological disorder chorea-acanthocytosis. This gene is registered in various scientific databases and is listed as a key resource for information on this condition. It has been extensively studied…