GUSB gene The GUSB gene (also known as the beta-glucuronidase gene) is responsible for producing an enzyme called beta-glucuronidase. This enzyme plays a crucial role in breaking down a specific type of sugar molecule called heparan sulfate. Heparan sulfate is…
The EFTUD2 gene is a vital gene in the genetic information of organisms. It is listed in scientific databases like OMIM, Pubmed, and Genet Testing. EFTUD2 gene is related to various health conditions, including microcephaly, dysostosis, and other diseases. Tests…
Optic atrophy type 1, or autosomal dominant optic atrophy (ADOA), is a rare genetic condition characterized by the degeneration of the optic nerves. This condition affects the energy-producing centers within the cells of the optic nerves, leading to vision loss…
Depression is a common mental disorder that affects millions of people worldwide. It is characterized by persistent feelings of sadness, loss of interest in activities, and a lack of energy. The frequency of depression is higher among women, with studies…
ATP2C1 gene is a genetic component that plays a crucial role in various cell-related processes. It is closely associated with a rare genetic disorder called Hailey-Hailey disease, also known as familial benign chronic pemphigus or Darier Disease. The ATP2C1 gene…
Genetic conditions are inherited disorders that can affect any individual, regardless of their ethnic background or family history. However, research has shown that certain genetic conditions are more prevalent in particular ethnic groups. This phenomenon can be attributed to various…
The FGFR3 gene, also known as fibroblast growth factor receptor 3, is a catalog of genetic changes that is responsible for a number of conditions. These conditions include different types of dwarfism, such as achondroplasia, hypochondroplasia, and thanatophoric dysplasia. Additionally,…
The EHMT1 gene is a crucial gene involved in the genetic condition known as Kleefstra syndrome. This gene, also referred to as ‘histone-lysine N-methyltransferase 1’, plays a significant role in the development of an individual’s genetic information. When a variant…
TIMM8A gene The TIMM8A gene, also known as the translocase of inner mitochondrial membrane 8 homolog A gene, is responsible for encoding a protein involved in the import of proteins into mitochondria. Mutations in this gene have been found to…
Caudal regression syndrome (CRS) is a rare condition characterized by the incomplete development of the lower spine. It is also known as sacral agenesis or sacral dysgenesis. CRS is thought to have a genetic component and is frequently associated with…