Category Genetics

Genes B are a group of genes that play a critical role in various biological processes. These genes are involved in the development and function of different organs and tissues in the body. They have been extensively studied and are…

Chronic myeloid leukemia (CML) is a rare form of leukemia that affects the bone marrow and blood. It is characterized by the abnormal growth and function of certain cells in the bone marrow, known as myeloid cells. These cells form…

MRAP gene, also known as Melanocortin 2 Receptor Accessory Protein gene, is an essential gene involved in the regulation of adrenal gland activity and glucocorticoid production. It plays a crucial role in maintaining hormonal balance and proper functioning of the…

The COL1A1 gene is responsible for encoding the alpha 1 chain of type I collagen, which is a major component of connective tissue found throughout the body. Mutations in this gene can lead to a variety of conditions, including osteogenesis…

The COL6A2 gene is responsible for producing the α2 chain of collagen, which is found in various connective tissues throughout the body. Collagen is an essential extracellular matrix molecule that provides structural support and strength to tissues such as skin,…

The PIK3CD gene, also known as the PI3K delta syndrome, is associated with a variant in the phosphatidylinositol 3-kinase (PI3K) gene family. This gene is central to the activation of the PI3K signaling pathway, which plays a crucial role in…

The QDPR gene, also known as Quinoid Dihydropteridine Reductase gene, is a gene that is related to disorders in the production of the enzyme QDPR. This enzyme is involved in the production of tetrahydrobiopterin (BH4), a cofactor necessary for the…

Hartnup disease is a rare genetic condition that affects the transport of certain amino acids. Amino acids are the building blocks of proteins, and they play a vital role in many cellular processes. In Hartnup disease, there is a defect…

Ethylmalonic encephalopathy is a rare genetic condition caused by excess ethylmalonic acid in the body. It is associated with mutations in the ETHE1 gene and typically presents with neurological symptoms. The condition was first described in 1991 by Zeviani et…

Direct-to-consumer genetic testing has gained popularity in recent years as a way for individuals to gain insight into their own genetic makeup and potential health risks. However, when it comes to the question of whether a direct-to-consumer genetic test can…