IDH3B

IDH3B is a gene located on chromosome 14q32.31. It encodes the isocitrate dehydrogenase 3 beta (IDH3B) protein, which is a member of the isocitrate dehydrogenase (IDH) family of enzymes. IDH enzymes catalyze the oxidative decarboxylation of isocitrate to alpha-ketoglutarate, a key step in the citric acid cycle. IDH3B is primarily expressed in the brain and plays a role in the metabolism of glutamate, a major excitatory neurotransmitter in the central nervous system.

Mutations in the IDH3B gene have been associated with a rare neurological disorder known as familial infantile myopathy with ragged-red fibers (FIMRR). This disorder is characterized by muscle weakness, hypotonia, and exercise intolerance. The mutations in IDH3B lead to the production of an altered IDH3B protein that cannot function properly, resulting in a disruption of glutamate metabolism and subsequent neurological symptoms.

Research on IDH3B is ongoing, with studies aiming to better understand the molecular mechanisms underlying FIMRR and to develop potential therapeutic strategies. The identification of IDH3B as a target for treatment in neurological disorders highlights the importance of this gene in maintaining normal brain function.