Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic condition that affects the normal function of the G6PD enzyme. This enzyme is important for red blood cell metabolism and plays a crucial role in protecting cells from oxidative damage. The deficiency is…
The UTP4 gene, also known as cirrhosis, a genetic disorder that affects the liver, is responsible for producing proteins involved in the formation of ribosomes. Ribosomes are essential cellular structures involved in protein synthesis, and mutations in the UTP4 gene…
The HMBS gene, also known as hydroxymethylbilane synthetase, is responsible for the synthesis of porphobilinogen, an intermediate in the heme biosynthesis pathway. Mutations in the HMBS gene can cause various forms of porphyria, a group of rare genetic disorders characterized…
The MT-ATP6 gene, also known as ATPase 6, is an important gene involved in mitochondrial ATP synthesis. It is located on the mitochondrial DNA and mutations in this gene can lead to various health-related conditions. The MT-ATP6 gene is associated…
The IL1A gene is responsible for producing the protein interleukin-1 alpha (IL-1α) which is involved in many immune and inflammatory processes in the body. It is a member of the interleukin-1 family of cytokines, which also includes IL-1β and IL-1…
Hypertension, also known as high blood pressure, is a common condition that affects millions of people worldwide. It is classified as a rare disease, with a frequency of less than 10 cases per 200,000 individuals. While the majority of cases…
The ATP8B1 gene is associated with a genetic disorder called FIC1 (familial intrahepatic cholestasis 1). This gene has been extensively studied and its information is available in various scientific databases, including OMIM. FIC1 is a progressive disease characterized by recurrent…
The SLC16A2 gene, also known as the monocarboxylate transporter 8 (MCT8) gene, is responsible for encoding a protein that plays a crucial role in the transport of thyroid hormones. This gene is located on the X chromosome, and mutations in…
Genetic tests have become increasingly popular in recent years, providing individuals with valuable information about their genetic makeup. These tests can offer insights into a wide range of topics, including whether an individual is at risk for certain medical conditions,…
Parathyroid cancer is a rare type of cancer that develops in the parathyroid glands, which are small glands located in the neck. These glands produce a hormone called parathyroid hormone (PTH), which helps regulate the levels of calcium and phosphorus…