SERPING1 gene
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 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 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 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…
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 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.…
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…
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 ALX3 gene is a key genetic component that plays a vital role in the regulation and development of various scientific and health-related processes. It is known to interact with other genes and is associated with changes in facial features…
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…
The FECH gene, also known as ferrochelatase, is a gene that encodes the enzyme responsible for catalyzing the insertion of iron into protoporphyrin IX, the final step in heme biosynthesis. Mutations in this gene can lead to changes in the…