The ITGA2B gene, also known as integrin alpha-IIb, is responsible for the production of the glycoprotein receptor component of the platelet-type fibrinogen receptor complex. This protein plays a crucial role in the formation of blood clots during wound healing and…
The NFU1 gene is responsible for encoding a protein that plays a critical role in the modification and cleavage of iron-sulfur clusters. Iron-sulfur proteins are essential for various cellular functions, including energy production and DNA repair. Mutations in the NFU1…
CHST3-related skeletal dysplasia, also known as Spranger type or Unger dysostosis, is a rare genetic condition characterized by abnormal bone development and joint abnormalities. It is caused by mutations in the CHST3 gene, which is responsible for the production of…
Pyridoxal 5′-phosphate-dependent epilepsy is a rare genetic condition associated with seizures. This autosomal recessive disorder is caused by a deficiency of the enzyme pyridoxal 5′-phosphate, which is necessary for the metabolism of the neurotransmitter gamma-aminobutyric acid (GABA). GABA is an…
The MOCS1 gene, also known as Molybdenum cofactor synthesis 1, is a gene that plays a crucial role in the production of the molybdenum cofactor (MoCo). This cofactor is essential for the function of several enzymes involved in various biological…
The CLCN5 gene is a gene listed in the GeneCards catalog. It is related to the CLC-5 gene and is involved in various diseases. This gene is also included in the Human Gene Mutation Database and the Genetic Testing Registry,…
The KRT6B gene is one of several cataloged keratin genes that code for keratins, which are a family of proteins that make up the structural scaffolding of various tissues in the body. Keratins are especially important for the health and…
Branchiootorenalbranchiootic syndrome is a rare genetic condition that affects the tissues in the neck and front of the small arch. It is also known as branchio-oto-renal syndrome. This disease is associated with hearing loss, cleft and other small arch abnormalities.…
The TUBB4A gene is responsible for encoding the beta-4A tubulin protein, which forms a crucial part of the microtubule cytoskeleton. Microtubules are the building blocks of the cytoskeleton, providing structural support and facilitating intracellular transport. Mutations in the TUBB4A gene…
The F7 gene is a genetic factor that is responsible for the production of coagulation factor VII (FVII) in the bloodstream. FVII is a protein involved in the blood clotting process. Mutations in the F7 gene can lead to a…