SLC25A19 : solute carrier family 25 member 19


Description

The SLC25A19 (solute carrier family 25 member 19) is a protein-coding gene located on chromosome 17.

The SLC25A19 gene provides instructions for producing a protein that is a member of the solute carrier (SLC) family of proteins. SLC proteins transport various compounds across cell membranes. The protein produced from the SLC25A19 gene specifically transports thiamine pyrophosphate into mitochondria, the energy-producing centers of cells. Thiamine pyrophosphate is essential for the function of the alpha-ketoglutarate dehydrogenase complex, a group of mitochondrial enzymes that act on alpha-ketoglutaric acid during the citric acid cycle (Krebs cycle). This transport of thiamine pyrophosphate into mitochondria is believed to be crucial for brain development.

Mitochondrial transporter responsible for transporting thiamine diphosphate into mitochondria. The mechanism by which this transport occurs, specifically whether it's influenced by membrane potential or the proton electrochemical gradient, remains unclear. Evidence for this function comes from several studies, including PubMed IDs 17035501, 18280798, 27188525, and 34587972.

SLC25A19 is also known as DNC, MCPHA, MTPPT, MUP1, THMD3, THMD4, TPC.

Associated Diseases


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