The NHLRC1 gene, also known as EPM2B, is a gene that is responsible for a variant of progressive myoclonus epilepsy. This gene is listed in the Online Mendelian Inheritance in Man (OMIM) catalog and is associated with the condition known…
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…
Russell-Silver syndrome (RSS) is a rare genetic condition that is characterized by slow growth, distinct facial features, and other physical and developmental abnormalities. It was first described in 1953 by Dr. Henry Silver and Dr. Alexander Russell. RSS affects an…
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…
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…
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…
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 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…
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 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…