Category Genetics

The OPN1LW gene, also known as the long-wave-sensitive opsin or opsin 1 (cone pigments), is a variant of the OPN1 gene family. The OPN1LW gene is listed as one of the three types of cone pigments that exist in humans,…

Primary spontaneous pneumothorax (PSP) is a rare condition that occurs when there is a sudden formation of air in the space between the lungs and the chest wall, causing the lung to collapse. It is called primary because it occurs…

The MMAB gene, also known as methylmalonic aciduria and homocystinuria type CblB type gene, is responsible for encoding a protein called methylmalonic aciduria type B protein. This protein plays a crucial role in the breakdown of certain amino acids and…

3-hydroxyacyl-CoA dehydrogenase deficiency is a rare genetic disease associated with a deficiency of the enzyme 3-hydroxyacyl-coa dehydrogenase. This enzyme is involved in the breakdown of fatty acids in the body. Without sufficient levels of this enzyme, the body is unable…

Cone-rod dystrophy is a rare genetic condition that affects the cone and rod cells in the retina. This condition, also known as retinal cone-rod dystrophy, is characterized by progressive vision loss, particularly in the central field of vision. Cone-rod dystrophy…

Cerebrotendinous xanthomatosis Cerebrotendinous xanthomatosis, also called cholesterinosis, is a rare genetic condition that causes the accumulation of fatty tissue, called xanthomas, in various parts of the body. This condition is caused by mutations in the CYP27A1 gene and is inherited…

The LBR gene, also known as the lamin B receptor gene, is a gene that encodes for the lamin B receptor protein. This protein is found within the nuclear envelope and plays a central role in the structure and functions…

Boomerang dysplasia is a rare genetic condition that affects the differentiation and growth of bone cells in the patient. This condition is associated with additional skeletal abnormalities and can be life-threatening for the affected individual. Boomerang dysplasia is caused by…

For many years, the scientific community has been intrigued by the role that genetics plays in determining a person’s height. It is widely understood that height is a complex trait, influenced by both genetic and environmental factors. In this article,…

Psoriatic arthritis is a condition that causes inflammation in the joints. It affects approximately 30% of persons with psoriasis, a chronic skin condition. Psoriasis is a genetic condition that is thought to be caused by a combination of genetic and…