Expert

The ABCG2 gene, also known as the ATP-binding cassette sub-family G member 2 gene, is listed in various genetic databases and resources. It is related to a group of genes that affect the ability of protein transport in the body.…

Christianson syndrome is a rare genetic condition that occurs in males. It was first described by Christianson and Tarpey in 2009 and is caused by mutations in the SLC9A6 gene on the X chromosome. This gene plays a role in…

Lung cancer is a national and global health issue, as it is one of the most common and deadly cancers worldwide. It is primarily caused by smoking, but there are other risk factors such as exposure to certain chemicals and…

The XK gene is an important gene that plays a significant role in the immune system. It is responsible for encoding a protein that is found on the surface of red blood cells and other cells in the body. This…

The ACY1 gene encodes the enzyme aminoacylase 1, which is involved in the metabolism of amino acids. This gene is listed in omim, a catalog of human genes and genetic disorders. Mutations in the ACY1 gene can lead to ACY1…

The KCNH2 gene, also known as hERG, encodes the potassium voltage-gated channel subfamily H member 2. This gene is catalogued in various databases and is associated with several cardiac disorders. Mutations in the KCNH2 gene have been linked to the…

Chromosome 12 is one of the 23 pairs of chromosomes in humans. It is a vital part of our genetic makeup, containing important genes that play a crucial role in various aspects of our health. Research conducted by the National…

Myoclonic epilepsy with ragged-red fibers (MERRF) is a rare genetic condition characterized by a combination of myoclonus (quick, jerking muscle spasms), seizures, and progressive weakness. It is caused by mutations in the mitochondrial genes, which are responsible for producing energy…

Metatropic dysplasia is a rare form of skeletal dysplasia characterized by narrow chest, severe short stature, and abnormal skeletal development. It is considered one of the more severe types of genetic disorders and is often associated with additional diseases and…

The NBN gene, also known as nibrin or Nijmegen breakage syndrome 1 (NBS1) gene, is responsible for encoding a protein that plays a critical role in repairing DNA breaks. DNA breaks can occur naturally during cell division or as a…