Category Genetics

The APOB gene, also known as the apolipoprotein B gene, is a gene that is responsible for producing a protein called apolipoprotein B. This protein plays a crucial role in the transportation of fats in the bloodstream. Mutations in the…

Menkes syndrome, also known as Menkes disease or Menkes kinky hair syndrome, is a rare genetic disorder that affects copper metabolism in the body. It was first described by John H. Menkes, an American pediatric neurologist, in 1962. Menkes syndrome…

Congenital bile acid synthesis defect type 2, also known as Δ4-3-oxosteroid 5β-reductase deficiency, is a rare genetic condition associated with the inability to synthesize bile acids. Bile acids are important for the absorption of fats in the body. This defect…

Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic condition where muscles primarily in the eyelids (ptosis) and throat (pharyngeal) impair with time. It is an autosomal dominantly inherited disease caused by the expansion of a trinucleotide repeat of the polyalanine…

The GP9 gene, also known as GP9CD42b gene, codes for a protein called glycoprotein IX (GPIX) that is present on the surface of platelets. Platelets play a crucial role in blood clotting, and any changes in the GP9 gene can…

The TBP (TATA-binding protein) gene is a key protein-coding gene that plays a crucial role in the regulation of gene expression. It has been extensively studied and its various aspects have been documented in numerous scientific publications. The gene itself…

The SHH gene, also known as Sonic Hedgehog gene, is an important genetic factor related to several health conditions. This gene plays a crucial role in the development and formation of various structures in the body, including the brain, face,…

Familial Hypercholesterolemia (FH) is a genetic condition characterized by high levels of low-density lipoprotein (LDL) cholesterol in the blood. It is caused by mutations in genes that affect the normal function of LDL receptors involved in the uptake of cholesterol…

Many people have moles on their skin, and it is a common belief that moles are determined by genetics. But is this really the case? Scientists have studied this question extensively, and the answer is not as straightforward as one…

The CTC1 gene is a crucial component in the replication of telomeres and is associated with the development of several genetic diseases and conditions. Telomeres are the protective caps located at the ends of chromosomes, and their replication is essential…