Category Genetics

The SCN8A gene is one of many genes that are associated with epilepsy and other related disorders. Mutations in this gene can lead to changes in the normal functioning of nerve cells, resulting in recurrent seizures and other symptoms of…

Aromatic l-amino acid decarboxylase deficiency is a rare genetic condition caused by a deficiency in the enzyme aromatic l-amino acid decarboxylase. This enzyme is responsible for the conversion of various amino acids into neurotransmitters, such as dopamine and serotonin, which…

Pnkd gene is a gene responsible for the development of the paroxysmal nonkinesigenic dyskinesia (PNKD), a neurological disorder characterized by involuntary movements. The PNKD gene is located on chromosome 2q35 and it encodes a protein called myofibrillogenesis regulator 1 (MR-1).…

The term “chromosome 18” refers to one of the 23 pairs of chromosomes in the human genome. Chromosomes are the molecular structures that carry genetic information in the form of genes. Each chromosome is made up of DNA and proteins,…

The TFAP2B gene is a key regulator of gene expression and plays a crucial role in various biological processes. It is involved in the development and function of numerous tissues and organs, including the central nervous system, heart, vasculature, and…

The ITGB3 gene is a gene that is only found in humans. It is located within the Glanzmann thrombasthenia (GT) blood clotting disorder. This gene is responsible for the production of the beta3 subunit of the glycoprotein IIb/IIIa complex on…

Chromosome 19 is one of the 23 pairs of chromosomes in humans. It is a relatively small chromosome, spanning about 58 million base pairs (the building blocks of DNA) and containing around 1,500 genes. Chromosome 19 is known to be…

The PCSK9 gene is a genetic variant that plays a crucial role in the regulation of cholesterol levels in the bloodstream. It provides instructions for making a protein known as proprotein convertase subtilisin/kexin type 9 (PCSK9), which is primarily produced…

The AIRE gene, also known as AutoImmune REgulator gene, is responsible for coding a protein that plays a crucial role in the development and function of the immune system. Mutations in this gene can lead to a rare autoimmune disorder…

Atopic dermatitis is a common skin condition that affects a large number of people. It is considered to be a genetic disorder, as studies have shown that certain genes play a role in its development. While the exact causes of…