When it comes to understanding human health and development, it is crucial to have accurate and reliable information about genetic variants. These variants are different versions of genes that may impact how our bodies function and our susceptibility to certain…
The CYP21A2 gene plays a crucial role in the production of hormones such as cortisol and aldosterone. Variants in this gene can cause deficiencies in these hormones, leading to a range of health disorders. Scientific research and clinical testing have…
The FLG gene, also known as the filaggrin gene, plays a crucial role in the development and maintenance of the epidermis, the outermost layer of the skin. Genetic mutations in this gene have been found to be associated with various…
The MN1 gene is a gene listed in various genetic databases and is also referred to as the “MN1 proto-oncogene, transcriptional regulator” and “MN1 oncogene”. It is located on chromosome 22 and plays a crucial role in various cellular processes.…
Megalencephaly-capillary malformation (MCAP) syndrome, also called megalencephaly-capillary malformation-polymicrogyria syndrome, is a rare genetic condition characterized by overgrowth of the brain (megalencephaly), small blood vessels on the skin (capillary malformation), and abnormalities in the development of the folds on the surface…
The COQ8A gene, also known as ADCK3, is a gene that provides instructions for making a protein involved in the synthesis of coenzyme Q10 (CoQ10). CoQ10 is an essential molecule that is found in every cell of the body and…
The ANTXR2 gene is associated with several health conditions, including Ramírez Syndrome, hyaline fibromatosis syndrome, and systemic hyalinosis. The ANTXR2 gene provides instructions for making a protein that is involved in the formation of extracellular matrix proteins and the regulation…
The VDR gene, also known as the Vitamin D receptor gene, plays a crucial role in various health conditions. It is responsible for the activity of the vitamin D-dependent receptor, which binds to vitamin D and regulates the levels of…
The SOX2 gene, also known as SRY (sex determining region Y)-box 2, is a gene that plays a crucial role in embryonic development and is involved in the regulation of various cellular processes. Mutations in the SOX2 gene have been…
The SMARCE1 gene is a genetic factor that has been listed among the additional Coffin-Siris syndrome genes (Coffin-Siris genes). Coffin-Siris syndrome is a rare genetic disorder characterized by developmental delay, intellectual disability, and various physical abnormalities. The SMARCE1 gene, also…