The MIR145 gene is a central player in many biological processes and is associated with various health conditions. It has been extensively studied and its functions have been well-documented in scientific literature. This gene is involved in the regulation of…
The OPRM1 gene, also known as the mu-opioid receptor gene, plays a crucial role in a cascade of chemical reactions that occur within the body. This gene is particularly important for its ability to bind to opioid receptors, which are…
MEGDEL syndrome is a rare genetic condition that affects infants and is characterized by 3-methylglutaconic aciduria, cardiomyopathy, deafness, and intellectual disability. The condition is caused by mutations in the SERAC1 gene, which is responsible for the proper function of cardiolipin,…
The TFAP2A gene encodes the AP-2α protein, which is a transcription factor that regulates the expression of other genes. AP-2α belongs to the AP-2 family of transcription factors, which play critical roles in development and maintenance of various tissues in…
The SLC45A2 gene provides instructions for making a protein called solute carrier family 45 member 2, also known as MATP (melanoma antigen recognized by T-cells 1). This gene is responsible for transporting molecules involved in the production of melanin, a…
Genetic testing is a medical procedure that is used to gather information about a person’s genes and DNA. It is done for a variety of reasons, including diagnosing genetic disorders, predicting the risk of developing certain diseases, and providing information…
Tetrahydrobiopterin (BH4) deficiency is a rare genetic condition that affects the metabolism of a compound called tetrahydrobiopterin. This condition is caused by mutations in genes involved in the production, recycling, or function of BH4. Mutations in any of these genes…
The MPV17 gene is a crucial gene for the health and proper functioning of the body. It is responsible for encoding a protein that is involved in mitochondrial DNA metabolism. Mitochondria are organelles present in every cell of our body…
DOORS syndrome, also known as Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures syndrome, is a rare genetic condition that affects multiple systems of the body. It is characterized by the presence of hearing loss, abnormalities in the nails and bones,…
MECP2-related severe neonatal encephalopathy is a rare genetic condition that affects the brain development of newborn babies. It is caused by mutations in the MECP2 gene, which is located on the X chromosome. This condition primarily affects boys, as it…