The SLC30A10 gene, also known as the zinc transporter 10 (ZNT10) gene, is listed as one of the important genes to be tested for hypermanganesemia. Hypermanganesemia is a condition caused by excess manganese in the body, which can lead to…
Junctional epidermolysis bullosa, also known as JEB, is a rare genetic condition that affects the formation of skin and other tissues. It is caused by mutations in certain genes. JEB can be inherited in an autosomal recessive manner, meaning that…
The TUBB3 gene, also known as the tubulin beta-3 class III gene, codes for a protein called beta-3 tubulin. This protein is a component of microtubules, which are structures involved in various cellular functions. The TUBB3 gene has been linked…
The PQBP1 (polyglutamine binding protein 1) gene, also known as PQBP-1, is a gene that plays a critical role in the development and function of the central nervous system. It is located on the X chromosome and encodes a protein…
Chromosome 17 is one of the 23 pairs of human chromosomes. It is classified as a submetacentric chromosome, meaning that its centromere is not located in the middle. This chromosome contains around 2.5 percent of the genetic materials in our…
The Wiskott-Aldrich Syndrome (WAS) is a rare genetic disorder characterized by immune system impairment. It is also known as the X-linked syndrome, as it primarily affects males and is caused by changes in a gene called Wiskott-Aldrich Syndrome Protein (WASP).…
Prothrombin deficiency is a rare genetic condition that affects the body’s ability to produce enough prothrombin, a protein involved in the clotting process. It is also known as hypoprothrombinemia and inherited prothrombin deficiency. Prothrombin deficiency can lead to a higher…
Genetic Conditions Q is a comprehensive guide that provides information on a wide range of genetic conditions. Genetic conditions are disorders caused by changes in an individual’s DNA sequence. These changes, called mutations, can result in a variety of health…
Winchester syndrome, also known as Winchester osteolysis, is a rare genetic disease that affects the bones. It is classified as an inherited osteolysis disorder, which means it leads to the progressive loss of bone tissue. The syndrome was first identified…
The STAT4 gene, also known as signal transducer and activator of transcription 4, is a gene that plays a crucial role in the immune system. It is involved in the regulation of various genes that stimulate immune responses, including the…