Branchiootorenalbranchiootic syndrome is a rare genetic condition that affects the tissues in the neck and front of the small arch. It is also known as branchio-oto-renal syndrome. This disease is associated with hearing loss, cleft and other small arch abnormalities.…
The F7 gene is a genetic factor that is responsible for the production of coagulation factor VII (FVII) in the bloodstream. FVII is a protein involved in the blood clotting process. Mutations in the F7 gene can lead to a…
The HOXB13 gene is a scientific term used to describe a specific gene that plays a crucial role in various health conditions and diseases. This gene encodes a protein that is involved in the development of certain cancers, particularly prostate…
The CHAT gene, also known as the choline acetyltransferase gene, is responsible for producing the choline acetyltransferase enzyme. This enzyme plays a crucial role in the synthesis of the neurotransmitter acetylcholine. Mutations in the CHAT gene can lead to decreased…
Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare genetic condition characterized by the progressive weakness and spasticity of the muscles, primarily in the legs. This disorder is also known as hereditary spastic paraplegia type 2 (SPG2) or ALS2-related disorders,…
The L1CAM gene plays a crucial role in genetic conditions and disorders. It is also known as the X-linked L1 syndrome. This gene provides instructions for making a protein that is important for the development and functioning of nerve cells.…
The KLHL3 gene, also known as KLHL3, is a scientific term related to pseudohypoaldosteronism type 2 (PHA2). It is one of the genes associated with the condition and plays a role in controlling the levels of certain proteins in the…
The LYST gene is a gene that is listed in the OMIM registry. This gene is associated with Chediak-Higashi syndrome, a rare genetic disorder that affects the lysosomal trafficking system. In individuals with changes within the LYST gene, this regulator…
SETX (senataxin) is a gene that is involved in DNA repair and information coordination. This article provides an overview of the SETX gene and its role in various conditions. SETX mutations have been associated with several diseases, including ataxia with…
The KRT5 gene, also known as keratin 5, is one of the genes responsible for the formation and development of the skin. This gene is available in the scientific databases and has been extensively studied due to the changes it…