Expert

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…

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…

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 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…

The CLCN7 gene, also known as clc-7, is an essential gene that plays a crucial role in bone health. It encodes for a channel protein called CLC-7, which is responsible for regulating the passage of negatively charged ions across cell…

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…

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…

CHMP2B-related frontotemporal dementia is a rare genetic disorder that causes a condition called frontotemporal dementia. It is associated with mutations in the CHMP2B gene on chromosome 3. Frontotemporal dementia is a group of neurodegenerative diseases that affect the frontal and…

The NOD2 gene, also known as CARD15, is a gene that plays a crucial role in the immune system. It is one of the genes associated with a group of disorders called Blau syndrome . These disorders are characterized by…