Category Genetics

The ZMPSTE24 gene, also known as the zinc metalloproteinase STE24, is a gene that plays a crucial role in the maturation of a variety of proteins. This gene is located on the nuclear envelope and is involved in the processing…

The SCNN1B gene is a genet that is associated with several health conditions and syndromes. It is also known as the ENaCβ gene, and it plays a crucial role in regulating the flow of sodium ions in the body. Sodium…

Deoxyguanosine kinase deficiency, also known as dCK deficiency, is a rare genetic condition that causes neurological and hepatic abnormalities in affected individuals. It is caused by mutations in the DGUOK gene, which encodes the deoxyguanosine kinase enzyme. This enzyme is…

The BRCA1 gene, also known as the breast cancer gene 1, is a gene that plays a significant role in the development of breast and ovarian cancer. It is one of the two main genes associated with hereditary breast and…

17 alpha-hydroxylase1720-lyase deficiency, also known as 17-OHD deficiency, is a genetic condition caused by a shortage of the enzyme 17 alpha-hydroxylase1720-lyase. This enzyme plays a crucial role in the production of certain hormones, including cortisol and sex hormones. As a…

The CA5A gene, also known as carbonic anhydrase 5A, is listed in the additional registry of genes related to genetic diseases and conditions. It plays a crucial role in the control and regulation of the body’s carbonic anhydrase enzymes. Carbonic…

The VRK1 gene is a genetic variant that is associated with several neurological disorders, including pontocerebellar hypoplasia. It is thought to play a role in the development and function of cells in the nervous system. Research on the VRK1 gene…

The Foxg1 gene is a key player in speech development and has been the subject of numerous scientific articles and genetic testing. Multiple genes are involved in speech development, but the Foxg1 gene in particular has been a focus of…

Androgenetic alopecia is a common form of hair loss, especially in men. It is also known as male-pattern baldness. The condition is characterized by the progressive shedding of hair from the scalp, resulting in a receding hairline and thinning of…

Alpha-1 antitrypsin (AAT) deficiency is a genetic condition that affects the lungs and liver. It is caused by mutations in the SERPINA1 gene, which is responsible for producing the AAT protein. AAT is mainly produced by the liver and helps…