The TRIP11 gene is related to the Golgi apparatus and plays a crucial role in the protein trafficking within cells. Also known as Golgin-97 or TRAF-interacting protein with forkhead-associated domain, TRIP11 is involved in various biological processes and has been…
BCOR is a gene that plays a crucial role in the development and growth of various organs and tissues in the human body. Genetic tests and scientific articles have identified BCOR as a key player in many health conditions and…
The SLC25A24 gene is a key gene involved in the transport of molecules across the mitochondrial membrane. It codes for a protein that plays a crucial role in mitochondrial function and energy production. Mutations in the SLC25A24 gene have been…
Obsessive-compulsive disorder (OCD) is a clinical condition characterized by the presence of obsessions and compulsions. Obsessions are intrusive and unwanted thoughts, ideas, or images that cause significant distress, while compulsions are repetitive behaviors or mental acts that individuals feel driven…
The RPSA gene, also known as the ribosomal protein SA gene, is a genetic sequence that is associated with congenital asplenia. This gene has been extensively studied and has been identified as one of the key genes involved in the…
The ASPA gene is responsible for the production of the enzyme aspartoacylase, which is involved in the breakdown of a molecule called N-acetylaspartate (NAA). NAA is found mainly in the brain and is associated with myelin, the protective coating around…
Refsum disease, also known as Refsum syndrome or heredopathia atactica polyneuritiformis, is a rare genetic disorder. It is named after Sigvald Bernhard Refsum, the Norwegian neurologist who first described the condition in 1946. It is an autosomal recessive disorder, which…
The CCM2 gene, also known as the Cerebral Cavernous Malformation 2 gene, is a gene that plays a crucial role in brain development and maintenance. It has been implicated in the development of cerebral cavernous malformations, which are abnormal clusters…
The MATR3 gene, also known as matrin 3, is a gene that provides instructions for making a protein called matrin 3. This gene is found on chromosome 5 and is involved in various cellular processes, including mRNA splicing, DNA repair,…
The RNF216 gene, also known as Ring finger protein 216, is a ubiquitin-protein ligase gene. It is involved in the regulation of various biological processes and has been found to play a role in several diseases. Researches on the RNF216…