Category Genetics

NSD1 gene

The NSD1 gene, also known as Nuclear Receptor Binding SET Domain Protein 1, is a genetic domain that plays a crucial role in various biological processes. It is located on chromosome 5q35.2 and encodes a protein involved in the regulation…

Atypical hemolytic-uremic syndrome

Atypical hemolytic-uremic syndrome (aHUS) is a rare genetic disorder that affects the body’s ability to regulate clotting in the blood vessels. It is associated with a certain gene mutation that causes the formation of clots in the small blood vessels,…

Costeff syndrome

Costeff syndrome, also known as optic atrophy type 3, is a rare genetic condition that affects the eyes and movement. It was first described in scientific articles in the mid-1990s and has since been cataloged by various organizations and databases,…

TGFB2 gene

TGFB2 gene, also known as Transforming Growth Factor Beta 2 gene, is a protein-coding gene that provides the information for producing the TGFB2 protein. This gene is one of the members of the TGFB superfamily which plays crucial roles in…

SFRP4 gene

The SFRP4 gene, also known as the Secreted Frizzled Related Protein 4 gene, is a scientific term used to describe a gene that is involved in the signaling and remodeling of tissues and bones. It is listed in various scientific…

LAMA2 gene

The LAMA2 gene is one of the genes related to the laminins, which are a family of proteins that play a crucial role in the structure and function of tissues. This gene is specifically related to lama2-related muscular dystrophy and…

C3 gene

The C3 gene is a variant gene that plays a crucial role in the development of several age-related macular degeneration and other related diseases. C3 is one of the proteins in the complement system, a part of the immune system…

Genetic Conditions V

In this article, we will explore several genetic conditions that are associated with the vitelliform macular dystrophy. These conditions include: seevexas dysplasia, leukoencephalopathy, and white long-chain dehydrogenase storage disease. Seevexas dysplasia is a rare genetic disorder that affects the development…

CLCF1 gene

The CLCF1 gene is a genetic resource that plays a role in the development of cold-induced sweating syndrome (CISS). This gene is also known by other names, including cytokine-like factor 1 (CLF1), BSF-3, and cardiotrophin-like cytokine factor 1 (CTF1). It…