The ADA gene, also known as adenosine deaminase, is a scientific and genetic database that contains information on the genetic changes and conditions associated with adenosine deaminase deficiency. The database includes references, additional articles, and resources for testing and health-related…
The AIP gene, also known as the aryl hydrocarbon receptor-interacting protein gene, is responsible for encoding a protein that is involved in various familial and hereditary conditions and diseases. The AIP gene is located on chromosome 11q13 and its protein…
The SOX10 gene, also known as the SRY-Box Transcription Factor 10, is a gene that plays a central role in the development and function of certain cells in the body. It is located on chromosome 22q13.1 and is involved in…
Blau Syndrome is a rare genetic inflammatory condition that affects various organs in the body. This syndrome is characterized by synovitis, which is the inflammation of the synovial membrane in joints, and dermatitis, which is inflammation of the skin. Blau…
The PARK7 gene, also known as DJ-1, is a genetic factor that has been of great interest in scientific studies related to Parkinson’s disease. PARK7 is one of the genes that has been extensively studied for its role in early-onset…
The SELENON gene is a crucial component of muscular health and is responsible for the proper functioning of muscle fiber types. Mutations in this gene can cause a variety of muscular conditions, including congenital myopathy and multiminicore disease. These conditions…
The BSCL2 gene is associated with a disorder called Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2). Lipodystrophies are a group of disorders characterized by abnormalities in the distribution of fats in the body. BSCL2 gene mutations have been identified as the…
The TNFRSF1A gene, also known as Tumor Necrosis Factor Receptor Superfamily Member 1A, is a gene that is associated with multiple conditions and diseases. It plays a role in various health conditions and its mutations or changes can lead to…
Congenital myasthenic syndrome (CMS) is a rare genetic condition that affects the function of muscles. It is a group of syndromes caused by mutations in genes that impair nerve-muscle communication. This leads to weakness and fatigue in the affected muscles.…
The ADAMTSL4 gene is one of the genes that codes for proteins involved in the development and maintenance of connective tissues, including fibrillin-1, which is found in the filaments of elastic fibers. Mutations in this gene have been associated with…