The FZD6 gene is a receptor gene that is involved in various genetic disorders and diseases. It is listed in scientific databases and health resources under different names, including “frizzled-6” and “FZD6.” This gene plays a crucial role in the…
The FMR1 gene, also known as fragile X mental retardation 1 gene, is a gene that is primarily associated with Fragile X syndrome (FXS), a genetic disorder that causes intellectual disability and other related conditions. The gene is found on…
The ACAD9 gene is a key player in maintaining good health. It encodes for an enzyme called acyl-CoA dehydrogenase 9, which is involved in the oxidation of fatty acids in the mitochondria. Deficiency in this gene can lead to a…
African iron overload, also known as Bantu siderosis or African siderosis, is a condition characterized by an abnormal accumulation of iron in the body. It is particularly prevalent in central and southern Africa, affecting up to 40 percent of the…
Ghosal hematodiaphyseal dysplasia is a rare genetic condition associated with bone diseases. It was first described in 1980 by Ghosal et al., and hence the name “Ghosal”. It is also known as “hematodiaphyseal dysplasia” and “Cormier-Daire-Vernejoul syndrome”. The frequency of…
The CUL7 gene is a variant of the cullin-7 gene, which is a key component of the ubiquitin-proteasome system. It is involved in the regulation of protein degradation and plays a crucial role in various cellular processes, including cell cycle…
Sandhoff disease, also known as Sandhoff disease, is a rare genetic condition that is associated with a deficiency of certain genes. It is a type of gangliosidosis, which is a group of rare inherited diseases. This disease is characterized by…
The CYP2C9 gene is related to the health and sensitivity of individuals to certain medications, particularly warfarin. It is a part of the cytochrome P450 superfamily of genes which encode enzymes responsible for metabolizing drugs and other substances in the…
The SETBP1 gene encodes for a protein that is involved in the regulation of several cellular processes. It plays a crucial role in the development and maintenance of myeloid cells. Mutations in this gene have been associated with a rare…
The CYP11B1 gene, also known as cytochrome P450 family 11 subfamily B member 1, is a gene that is responsible for the production of proteins involved in steroid hormone synthesis. This gene is located on chromosome 8 in humans and…