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…
Xeroderma pigmentosum (XP) is a rare genetic condition characterized by extreme sensitivity to ultraviolet (UV) radiation from sunlight. Individuals with XP have a deficiency in their body’s ability to repair damage to the DNA in skin cells caused by UV…
The CYP7B1 gene is a gene that is listed in the Human Gene Mutation Database (HGMD) as a type of cytochrome P450 enzyme. This gene is associated with a condition known as spastic paraplegia, which is characterized by weakness and…
The POMT1 gene is an early health gene that is listed in various databases such as OMIM. It is involved in the testing and diagnosis of various disorders that result from a damaged POMT1 gene. These disorders often present with…
The SLC22A5 gene, also known as cationcarnitine transporter 2 (OCTN2) gene, provides instructions for making a protein that is involved in the transport of organic cations, including carnitine. Carnitine is an essential molecule for the transport of fatty acids into…