Category Genetics

The anti-müllerian hormone receptor type 2 (AMHR2) gene is a gene that plays a crucial role in the development and functioning of reproductive organs in males and females. It is located on the long arm of chromosome 12. Mutations or…

The OPN1MW gene is responsible for the production of a protein called opsin, which is essential for the color vision process. Mutations or deficiencies in this gene can lead to various genetic disorders affecting color perception and vision. These conditions…

Isolated ectopia lentis is a rare condition that affects the lenses of the eyes. It is characterized by the displacement of the lens from its normal position in the eye. The frequency of this condition is not well documented, but…

The CYP27A1 gene is a genetic regulatory gene that plays an important role in the biosynthesis of bile acids. This gene is listed in various scientific resources and registries, such as OMIM, PubMed, and the NCBI Gene Catalog. It belongs…

CLN4 disease, also known as neuronal ceroid lipofuscinosis (NCL), is a rare genetic condition that affects the central nervous system. It is caused by mutations in the CLN4 gene, which leads to a buildup of lipopigments in nerve cells. The…

The GNAI3 gene, also known as the nucleotide-binding protein subunit alpha-3, is a gene that is related to various genetic conditions and syndromes. It is one of the subunits of the G proteins, a family of proteins that play a…

Distal hereditary motor neuropathy type V (dHMN-V) is a rare and unknown condition that causes progressive weakness and muscle wasting in the distal muscles of the feet and hands. It is a form of hereditary motor neuropathy (HMN) characterized by…

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a rare genetic disorder that affects the function of the enzyme 3-hydroxyacyl-CoA dehydrogenase. This enzyme is responsible for breaking down long-chain fatty acids for energy in the body. Patients with LCHAD deficiency have defects…

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic neurodegenerative disorder characterized by the accumulation of iron in the brain, leading to progressive degeneration of the nervous system. PKAN is typically associated with mutations in the PANK2 gene, which encodes the…

The GPR101 gene, also known as the X-LAG syndrome gene, is a genetic variant that is related to the development of certain hormonal disorders. This gene plays a crucial role in regulating the production and release of hormones in the…