Prolidase deficiency is a rare genetic condition that affects the body’s ability to break down certain proteins. It is caused by mutations in the PEPD gene, which provides instructions for making the enzyme prolidase. Prolidase is responsible for breaking down…
The JPH3 gene is a genetic variant that has been associated with several conditions, including Huntington’s disease and other related complex diseases. Testing for this variant is available through genetic testing labs and can be done to determine a person’s…
The PDGFB gene is one of the genes that play a crucial role in maintaining the health and function of various tissues and organs in the human body. It is involved in several important processes, including cell growth, tissue repair,…
The PNP gene is a genetic variant that affects purine nucleoside phosphorylase (PNP) enzyme. PNP enzyme is responsible for the conversion of purine nucleosides, such as guanosine and deoxyguanosine, into their respective bases and ribose-1-phosphate. Major changes in this gene…
The RAD51 gene is an essential genetic component involved in the control of movement. It belongs to the reca motor protein family and is listed in scientific databases such as OMIM and PubMed. Mutations in this gene have been found…
The EYA1 gene is a genetic factor associated with various disorders and anomalies. It is primarily related to branchiootorenal syndrome, a congenital condition characterized by abnormalities in the neck and urinary tract. This gene plays a crucial role in the…
Genetic testing has become an increasingly popular topic in the field of medicine. Many individuals are interested in learning more about their genetic makeup and how it may impact their health. However, it is important to determine whether a genetic…
Migraine is a neurological condition characterized by recurring intense headaches, often on one side of the head. These headaches are typically accompanied by other symptoms such as nausea, sensitivity to light and sound, and vomiting. Migraines can last from a…
The TUBB2B gene is one of the genes that encode for β-tubulin, a protein that is part of the tubulin family. This gene is primarily expressed in the brain and plays a crucial role in the development and function of…
Autosomal dominant hypocalcemia, also known as ADH, is a rare inherited syndrome characterized by low levels of calcium in the blood. It is caused by mutations in the CASR gene, which encodes the calcium-sensing receptor. This gene plays a crucial…