Expert

The AFF4 gene is a genetic variant that has been linked to certain developmental disorders and cancers. This gene is part of a complex of proteins called the Super Elongation Complex (SEC), which plays a role in the development and…

Frontometaphyseal dysplasia is a rare genetic disorder characterized by abnormalities in the development of the facial bones and long bones of the limbs. It is caused by mutations in the FLNA gene, which is associated with other types of skeletal…

Stickler syndrome is a rare genetic condition that is caused by alterations in certain genes. It is classified as a hereditary connective tissue disorder, meaning it affects the tissues that provide support, structure, and elasticity to various parts of the…

The MSH6 gene is one of the genes that play a crucial role in DNA mismatch repair, a process that ensures the fidelity of DNA replication. This gene provides instructions for making a protein that helps fix errors that occur…

The PRKAG2 gene is associated with a group of disorders known as glycogenosis. Additional conditions, such as Wolff-Parkinson-White syndrome, hypertrophic cardiomyopathy, and atrial fibrillation, have also been linked to mutations in this gene. The PRKAG2 gene encodes a subunit of…

The ABAT gene, also called GABA-transaminase, is a scientific gene that is listed on various genetic databases and resources. It is associated with a rare genetic disorder called GABA-transaminase deficiency. This gene is responsible for encoding the enzyme GABA-transaminase, which…

Mal de Meleda, also known as Meleda Disease, is a rare genetic condition that causes thick and dry skin, primarily on the palms of the hands and soles of the feet. This condition is associated with mutations in the SLURP1…

The INSR gene, also known as the insulin receptor gene, is responsible for producing insulin receptors in various tissues throughout the body. Insulin receptors play a crucial role in the regulation of glucose metabolism and are vital for the normal…

The PIGV gene is a scientific gene that encodes an enzyme called phosphatidylinositol glycan anchor biosynthesis class V (PIG-V) protein. This gene is also known as the MABRY syndrome gene, as it is associated with an inherited variant that causes…

The PNKP gene, also known as polynucleotide kinase 3′-phosphatase, is a crucial gene involved in various developmental processes. Mutations in this gene have been found to cause developmental delay, microcephaly, seizures, ataxia, and other neurological conditions. This gene is listed…