The AAAS gene, also known as the achalasia-addisonianism-alacrima syndrome gene, codes for a protein that plays a crucial role in the nucleus of cells. This gene is associated with a rare genetic disorder called Achalasia-Addisonianism-Alacrima Syndrome (AAA syndrome) which is…
The EZH2 gene, also known as Enhancer of Zeste Homolog 2, is a protein-coding gene that plays a crucial role in the epigenetic regulation of gene expression. It is involved in the process of histone methylation, which can either activate…
The CRX gene, also known as Cone-rod homeobox gene, is a crucial gene associated with various retinal diseases and conditions. The gene was first identified and characterized in scientific literature, with several publications available on PubMed. The most cited article…
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 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…
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 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…
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…
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 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…