Familial dysautonomia, also known as Riley-Day syndrome, is a rare autosomal recessive genetic condition that affects the autonomic nervous system. It is associated with a variety of symptoms and can cause significant challenges for affected individuals and their families. The…
Persistent Müllerian duct syndrome (PMDS) is a rare genetic condition that affects males. It is characterized by the presence of Müllerian duct structures in males, which are typically found in females and play a role in the development of female…
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 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 SGCD gene is a significant gene involved in several genetic disorders related to muscular and cardiac health. It is one of the many genes that play a role in the limb-girdle muscular dystrophy (LGMD) and dilated cardiomyopathy (DCM). Sarcoglycanopathies,…
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…
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 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…
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…
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…