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…
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 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…
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…
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…
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…
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…
The AIP gene, also known as the aryl hydrocarbon receptor-interacting protein gene, is responsible for encoding a protein that is involved in various familial and hereditary conditions and diseases. The AIP gene is located on chromosome 11q13 and its protein…
The ADA gene, also known as adenosine deaminase, is a scientific and genetic database that contains information on the genetic changes and conditions associated with adenosine deaminase deficiency. The database includes references, additional articles, and resources for testing and health-related…
The PARK7 gene, also known as DJ-1, is a genetic factor that has been of great interest in scientific studies related to Parkinson’s disease. PARK7 is one of the genes that has been extensively studied for its role in early-onset…