Category Genetics

The ATP7B gene is a part of the copper-transporting ATPase family of genes and enzymes. It is primarily involved in the removal and transport of copper within the body. Mutations in this gene can lead to Wilson disease, a genetic…

Night blindness is a condition characterized by the inability to see clearly in low-light or dark environments. One form of night blindness is known as autosomal dominant congenital stationary night blindness (ADCSNB). ADCSNB is a genetic disease that affects the…

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 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…

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…

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…

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…

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…

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…