Propionic acidemia is a rare genetic condition that causes a deficiency in the enzyme propionyl-CoA carboxylase. This enzyme is responsible for breaking down certain amino acids and fats in the body. Without enough of this enzyme, propionic acid and other…
Sick sinus syndrome (SSS) is a rare condition that affects the electrical signals in the heart and causes slow and irregular heartbeats. It occurs when the sinus node, which generates the electrical signals that control the heartbeat, doesn’t function properly.…
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…
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 SRD5A2 gene is a key player in the development of various conditions and disorders. It is involved in the production of enzymes that play a crucial role in the metabolism of steroid hormones. Scientific studies have shown that changes…
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…
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 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…
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 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…