The EXT1 gene, also known as exostosin-1, is a gene that is associated with multiple conditions and syndromes. It has been extensively researched and documented in scientific literature, including articles on Pubmed and OMIM databases. The EXT1 gene is related…
The INS gene, also known as the insulin gene, is a gene that plays a critical role in human health. It is primarily associated with the production of insulin, a hormone that regulates blood sugar levels. The INS gene is…
Spinal muscular atrophy with lower extremity predominance, also known as SMALED, is a rare genetic condition that primarily affects the lower extremities of the body. This condition is thought to be caused by a mutation in the DYNC1H1 gene, which…
The WDR35 gene, also known as the cranioectodermal dysplasia 1 (CED1) gene, plays a central role in the proper development and function of various proteins involved in the transport pathway. It is associated with a genetic condition known as cranioectodermal…
The GYS2 gene is responsible for encoding the glycogen synthase 2 enzyme. Glycogen synthase is crucial for glycogen storage in the body, especially in the liver and skeletal muscles. Mutations in the GYS2 gene can lead to various glycogen storage…
Chromosome 1 is one of the 23 pairs of chromosomes in humans. It is the largest autosome in the human genome and contains approximately 4.8% of the total DNA in cells. It plays a crucial role in many biological processes…
The STRC gene, also known as stereocilin gene, is a gene that plays a crucial role in hearing. Mutations in this gene can lead to various types of hearing loss and other related conditions. This gene is located on chromosome…
The MAP2K2 gene is a member of the rasmapk signaling pathway, which plays a crucial role in cell growth, differentiation, and survival. Also known as MEK2 (mitogen-activated protein kinase kinase 2), MAP2K2 is responsible for activating the MAPK signaling cascade.…
Essential Tremor is a specific condition characterized by involuntary rhythmic shaking of parts of the body, most commonly the hands and head. It is one of the most common movement disorders, affecting millions of people worldwide. Research on Essential Tremor…
The GNAQ gene is a certain gene that has been extensively studied and researched due to its association with a condition called Sturge-Weber syndrome. Numerous articles and databases have been dedicated to collecting information about the gene, its functions, and…