The MTTP gene, also known as the microsomal triglyceride transfer protein gene, is a gene that is related to genetic disorders affecting lipid metabolism. Mutations in this gene can lead to impaired absorption and transport of triglycerides and fat-soluble vitamins,…
The MT-CYB gene, also known as the mitochondrial cytochrome b gene, is a gene that codes for the cytochrome b protein. This protein is a part of the complex III in the mitochondrial respiratory chain. The MT-CYB gene is located…
The HSPB1 gene encodes a small heat-shock protein, also known as HSP27. Heat-shock proteins play an essential role in cellular health by protecting cells from damage and promoting their survival under conditions of stress. This gene is listed in the…
The ZIC2 gene, also known as Zic family member 2, is a gene that plays a critical role in embryonic development. It is a member of the ZIC family of transcription factors, which are involved in regulating gene expression. Mutations…
Leydig Cell Hypoplasia (LCH) is a rare genetic condition that affects males. It is caused by recessive gene mutations, which result in the underdevelopment of Leydig cells, the hormone-producing cells in the testes. This condition is associated with a lack…
Succinic semialdehyde dehydrogenase deficiency (SSADH) is a rare genetic condition that affects the metabolism of the neurotransmitter gamma-hydroxybutyric acid (GHB). This condition is caused by mutations in the ALDH5A1 gene, which encodes an enzyme called succinic semialdehyde dehydrogenase. SSADH deficiency…
The ALDH7A1 gene provides instructions for making an enzyme called alpha-aminoadipic semialdehyde dehydrogenase. This enzyme is involved in the breakdown of certain molecules called lysine and tryptophan. Lysine is an amino acid that is a building block of proteins, while…
Coats Plus syndrome is a rare condition that is characterized by the presence of Coats disease, in addition to other clinical features. Coats disease is a rare eye disorder that affects the blood vessels behind the retina, leading to vision…
The LDLRAP1 gene is involved in the regulation of cholesterol levels in the bloodstream. It codes for a protein that helps remove low-density lipoprotein receptors (LDLR) from the surface of cells, allowing for the uptake of LDL cholesterol into the…
The GBA gene, also known as the glucocerebrosidase gene, is responsible for producing an enzyme called beta-glucosidase. This enzyme plays a crucial role in breaking down a fatty substance called glucocerebroside. Genetic changes in the GBA gene can lead to…