Category Genetics

The DRD5 gene, also known as the dopamine receptor D5, is one of the many genes involved in brain function and essential for maintaining overall health. This gene is part of a family of genes called dopamine receptors, which play…

Alagille Syndrome is a rare genetic disorder that affects various organs and systems within the body. It was first described by Dr. Daniel Alagille in 1969, hence the name. This condition is also known by other names such as Alagille-Warthen…

The interferon, gamma (IFNG) gene encodes a protein called interferon gamma, which plays a crucial role in the immune system. Interferon gamma is a type of cytokine, a small protein that helps regulate the immune response. It is produced by…

JAK3-deficient Severe Combined Immunodeficiency (SCID) is a rare genetic condition that affects the immune system. SCID is a group of genetic disorders that cause severe deficiencies in the immune system, making individuals extremely susceptible to infections. JAK3-deficient SCID is named…

Liddle syndrome is a rare genetic condition that is associated with hypokalemia and low blood pressure. It was first described by Dr. J. Liddle in 1963. Liddle syndrome is caused by mutations in the SCNN1B or SCNN1G genes, which code…

D-bifunctional protein deficiency is a rare genetic condition caused by mutations in the HSD17B4 gene. This gene provides instructions for making a protein that is involved in the breakdown of certain fats called very long-chain fatty acids. The D-bifunctional protein…

The CHMP2B gene, also known as the charged multivesicular body protein 2B, is a gene that is related to endocytosis, a cellular process involved in the transport of proteins and other molecules within the cell. This gene has been listed…

22q133 deletion syndrome, also known as Phelan-McDermid syndrome, is a rare genetic condition characterized by the deletion of a segment of chromosome 22. It is named after the two researchers who first identified the syndrome. The syndrome affects multiple body…

The ACVRL1 gene, also known as ALK-1 (Activin A receptor type II-like kinase 1), is a gene that encodes a protein involved in the development and growth of blood vessels. It is one of the genes listed in the Genetic…

The CPT1A gene, also known as the “carnitine palmitoyltransferase 1A” gene, is a scientific term for a gene that encodes an enzyme that plays a crucial role in the metabolism of long-chain fatty acids. This gene is found in humans…