TPN1

TPN1, also known as TPN13, is a protein that in humans is encoded by the TPN1 gene. This gene is located on chromosome 17q21.3. TPN1 is a member of the TPN/TIM family of proteins, which are involved in various cellular processes, including protein folding, protein transport, and protein degradation.

The TPN1 protein is primarily expressed in the liver, where it plays a crucial role in the metabolism of lipids and carbohydrates. It is involved in the transport of fatty acids and other lipids across the mitochondrial membrane, facilitating their oxidation and energy production. Additionally, TPN1 is implicated in the regulation of glucose metabolism and insulin signaling.

Mutations in the TPN1 gene have been associated with several genetic disorders, including familial hypertriglyceridemia, a condition characterized by elevated levels of triglycerides in the blood. Other disorders linked to TPN1 mutations include non-syndromic intellectual disability and developmental delay.

Research on TPN1 is ongoing, with studies aimed at understanding its precise functions and potential therapeutic applications. The protein's role in lipid and glucose metabolism makes it a target of interest for the development of drugs to treat metabolic disorders.