Category Genetics

The CTSA gene is a member of a group of genes called CATHEPSIN A. CATHEPSIN A is responsible for encoding a protein called lysosomal protective protein (PPGB). The CTSA gene is found on chromosome 20 and is responsible for producing…

Tyrosine hydroxylase deficiency is a rare genetic condition associated with the impairment of the enzyme tyrosine hydroxylase. This enzyme is responsible for the conversion of the amino acid L-tyrosine to L-DOPA, an important step in the production of the neurotransmitters…

The SPTLC1 gene, also listed as serine palmitoyltransferase long chain base subunit 1, is known to play a crucial role in the production of sphingolipids. These lipids are important for maintaining the health and functionality of nerve cells. Mutations in…

The CDH23 gene is a nonsyndromic gene that is associated with hearing loss. It plays an important role in the development and maintenance of the sensory hair cells in the inner ear. Mutations in this gene can lead to both…

The LEP gene, also known as the leptin gene, is a gene that encodes for the hormone leptin. Leptin plays a crucial role in regulating body weight and metabolism. Research on the LEP gene has revealed a variety of interesting…

Lafora progressive myoclonus epilepsy, also known as Lafora disease, is a rare genetic condition that affects the nervous system. It is named after the Spanish neurologist Gonzalo Rodríguez-Lafora, who first described the disease in 1911. This condition is characterized by…

Sickle cell disease is a genetic condition that affects the shape of red blood cells. It is named after the sickle-shaped cells that are characteristic of the disease. People with sickle cell disease typically have episodes of pain called crises,…

Ménière’s disease, also known as endolymphatic hydrops, is a rare condition that affects the inner ear and can lead to progressive hearing loss, recurrent vertigo, and tinnitus. It was first described by the French physician Prosper Ménière in 1861 and…

Monoamine oxidase A (MAOA) deficiency is a rare genetic condition that affects the activity of an enzyme called monoamine oxidase A. This enzyme plays a crucial role in breaking down certain chemicals in the brain, such as neurotransmitters like serotonin,…

The EVC gene is one of the genes related to Ellis-Van Creveld syndrome, also known as chondroectodermal dysplasia. This condition is characterized by various signs and defects, including dwarfism, abnormal teeth, and polydactyly. The EVC gene is responsible for encoding…