Expert

The RELN gene, short for Reelin, is a crucial gene in the field of scientific research as it is associated with various health disorders. This gene variant is inherited in a recessive manner and is known to cause autism. Testing…

Intrahepatic cholestasis of pregnancy, also known as obstetric cholestasis, is a liver condition that affects women during pregnancy. It is a rare condition, occurring in about 1 in every 1,000 pregnancies. The frequency of intrahepatic cholestasis of pregnancy varies among…

The CHRNB2 gene, also known as the cholinergic receptor nicotinic beta 2 subunit gene, is one of the many genes involved in encoding the subunits of the cholinergic receptors. These receptors are a type of neuronal receptor that bind to…

Ocular albinism is a rare genetic condition that affects the eyes. It is also known as X-linked ocular albinism, as it is caused by abnormalities in the genes on the X chromosome. This condition primarily affects males, although females can…

The AMELX gene, also known as amelogenin, is one of the key genes involved in the development of tooth enamel. This gene provides instructions for making a protein that is essential for enamel formation. Amelogenin crystals, produced by the AMELX…

Retroperitoneal fibrosis is a rare condition that causes the build-up of fibrous tissue in the retroperitoneum, the space behind the abdominal cavity. This fibrous tissue can obstruct the flow of urine, bile, and other fluids through the affected area, leading…

Collagen VI-related dystrophy is a rare genetic condition that is associated with defects in the production of collagen VI, a protein that helps support connective tissue in the body. The condition is typically inherited in an autosomal dominant manner, meaning…

The TCHH gene provides instructions for making a protein called trichohyalin. This protein is found in the innermost layer of the hair follicle, called the cortex. Trichohyalin is involved in the formation of the hair shaft, which gives hair its…

The RNF213 gene, also known as ring finger protein 213, is related to a rare genetic disorder called moyamoya disease. This disease is characterized by the narrowing of certain blood vessels in the brain, which leads to a reduced blood…

The XDH gene, also known as the Xanthine Dehydrogenase gene, is a genetic gene that is responsible for encoding the xanthine dehydrogenase enzyme. This enzyme plays a crucial role in the breakdown of purines, which are important building blocks of…