The TSEN54 gene is responsible for encoding a subunit of the tRNA splicing endonuclease, which is involved in the process of removing introns from transfer RNA (tRNA) precursors. This gene has been found to be associated with various diseases, including…
White sponge nevus is a rare genetic condition that affects the oral mucosal tissues, causing them to appear white and thickened. It is also known as familial white folded mucosae or nevus leukoplakia. This condition is usually inherited in an…
The SERPING1 gene is one of the genes listed in the catalog of genetic tests. It is involved in several types of blood-related conditions and is a key gene in the regulation of the body’s immune response. Testing for changes…
The LAMP2 gene, also known as lysosome-associated membrane protein 2, is a gene that encodes a protein involved in the function of lysosomes and autophagosomes. Mutations in this gene can lead to a rare genetic condition called Danon disease, which…
The MCOLN1 gene, also known as mucolipin-1, is responsible for encoding a protein that plays a crucial role in the transport of membranes and autophagy. Changes in this gene can lead to the development of genetic conditions, such as mucolipidosis…
The BUB1B gene, also known as BUB1 beta, is a gene that is attached to the sister chromatids during cell division. It plays a crucial role in the cell cycle checkpoint, ensuring the accurate distribution of chromosomes to daughter cells.…
Congenital plasminogen deficiency is a rare genetic condition that is characterized by a deficient or absent production of plasminogen, a protein that plays a key role in the dissolution of blood clots. The exact cause of this deficiency is unclear,…
The HEPACAM gene is one of the genes listed in the PubMed database that is associated with changes in certain health conditions. It has been found to be related to the development of subcortical cysts. These cysts can cause symptoms…
The STK11 gene, also known as LKB1, is a tumor suppressor gene that plays a critical role in preventing the formation of various types of cancer. This gene is associated with a condition called Peutz-Jeghers syndrome, which is characterized by…
Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME) is a rare genetic condition that affects the nerves controlling the muscles in the body. This condition is characterized by muscle weakness and atrophy, along with progressive myoclonic epilepsy. The exact causes…