The FGG gene, also known as fibrinogen gamma chain gene, is related to congenital disorders affecting blood clotting. This gene is responsible for the production of a protein called fibrinogen gamma chain, which plays a crucial role in the formation…
The LARS2 gene, also known as Leucine–tRNA ligase, encodes a protein that is part of a family of enzymes called aminoacyl-tRNA synthetases. These enzymes play a crucial role in protein synthesis by attaching specific amino acids to their corresponding transfer…
The ATP1A2 gene provides instructions for making a protein called the alpha-2 subunit of Na This protein is part of a complex enzyme called the sodium-potassium adenosine triphosphatase (Na/K ATPase). Na/K ATPase is found in the cell membrane of many…
Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease that affects movement and causes problems with balance, walking, and eye movements. Although PSP shares some similarities with Parkinson’s disease, it is a distinct condition with its own set of symptoms…
The KRT16 gene, also known as keratin 16, is a variant of the KRT16 gene. It is one of the genes listed in the PubMed database and is related to various conditions and diseases. The molecular changes in this gene…
The MLYCD gene, also known as malonyl-coenzyme A decarboxylase (MLYCD), is responsible for the molecular changes required for the decarboxylase reaction that converts malonyl-CoA into acetyl-CoA, releasing carbon dioxide as a byproduct. This process is crucial for the production of…
Neurohypophyseal diabetes insipidus (NDI) is a rare condition characterized by the inadequate production or release of vasopressin, a hormone that controls water balance in the body. NDI can affect both adults and children, and its symptoms can become apparent at…
Nonsyndromic holoprosencephaly is a rare genetic condition affecting the development of the brain. It is characterized by a failure of the brain to divide into two separate hemispheres during early embryonic development, resulting in various structural abnormalities of the brain…
The F5 gene, also known as Factor V gene, is responsible for the production of coagulation factor V, a protein involved in the blood clotting system. Mutations in the F5 gene can lead to various forms of thrombophilia, a rare…
Attention-deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder that affects both children and adults. It is characterized by symptoms of inattention, hyperactivity, and impulsivity. ADHD is not a rare condition, as it affects approximately 5-12% of children worldwide. It…