The TERT gene, also known as the telomerase reverse transcriptase gene, is a key component in the maintenance of telomeres, which are the protective caps on the ends of chromosomes. Telomeres play a crucial role in cell division and preventing…
Keratoconus is a rare genetic condition that affects the corneal structure, causing it to thin and gradually develop a cone-like shape. This condition has been linked to multiple genes, and studies have shown that it can be inherited in a…
Congenital afibrinogenemia is a rare genetic condition characterized by a deficiency of the blood clotting protein fibrinogen. It is caused by mutations in the FGA, FGB, or FGG genes, which provide instructions for making fibrinogen. The frequency of this condition…
The question of whether genes can be patented has been a topic of much debate and controversy in the field of genetic testing and sequencing. Patents, which grant exclusive ownership rights for an invention or discovery, have traditionally been utilized…
Trichorhinophalangeal syndrome type II, also known as TRPS II, is a rare genetic condition that affects multiple parts of the body. It is characterized by long, thin fingers and toes, a distinctive facial appearance, and abnormalities in the hair and…
The GLB1 gene, also known as the beta-galactosidase-1 gene, is responsible for coding the enzyme known as beta-galactosidase. This enzyme is involved in the breakdown of certain complex molecules called glycolipids, specifically gangliosides. Mutations in the GLB1 gene can lead…
The ADNP gene, also known as Activity-dependent neuroprotector homeobox protein, is a gene that plays an important role in brain development and functioning. It is associated with a spectrum of neurodevelopmental disorders, including autism spectrum disorder (ASD). The ADNP gene…
10q26 deletion syndrome is a rare genetic condition that occurs when a small piece of genetic material on the long arm of chromosome 10 is missing. This condition is also known as 10qter deletion syndrome, as the deletion occurs on…
Wilson disease, also known as hepatolenticular degeneration, is a rare inherited condition characterized by the accumulation of copper in various tissues of the body. It is caused by mutations in the ATP7B gene, which encodes a copper-transporting protein. This protein…
The SLC6A3 gene, also known as the dopamine transporter gene, provides instructions for making a protein called the dopamine transporter. This protein is responsible for the reuptake of dopamine from the synapse, a small gap between neurons, back into the…