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…
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 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.…
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 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…
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 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…
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 RBPJ gene, also known as recombining binding protein suppressor of hairless, is a key player in the Notch signaling pathway. This gene is listed on the OMIM database for its association with various genetic diseases, including Adams-Oliver syndrome and…
The CYB5R3 gene is a crucial component of the human body’s ability to maintain health and functionality. Methemoglobinemia, a group of disorders related to the decrease in oxygen-carrying capacity of hemoglobin, is directly linked to errors or changes in this…