SLC25A14

Description

The SLC25A14 (solute carrier family 25 member 14) is a protein-coding gene located on chromosome X.

SLC25A14, also known as Brain mitochondrial carrier protein 1 (BMCP-1), is a protein encoded by the SLC25A14 gene in humans. It belongs to the family of mitochondrial anion carrier proteins (MACPs) and is related to mitochondrial uncoupling proteins (UCPs). UCPs separate oxidative phosphorylation from ATP synthesis, dissipating energy as heat (known as mitochondrial proton leak). They facilitate the transfer of anions from the inner to the outer mitochondrial membrane and protons from the outer to the inner membrane, reducing mitochondrial membrane potential in mammalian cells. While tissue specificity exists for different UCPs, the exact mechanisms of H+/OH- transfer are unclear. SLC25A14 is widely expressed, with high abundance in the brain and testis. It contains the three homologous domains of MACPs and has an N-terminal hydrophobic domain not present in other UCPs. Two splice variants of the gene have been identified.

SLC25A14 transports inorganic anions such as sulfate, sulfite, thiosulfate, and phosphate. It also transports dicarboxylates (malonate, malate, citramalate), aspartate, glutamate, and tricarboxylates. The protein may catalyze the export of sulfite and thiosulfate from mitochondria, potentially influencing hydrogen sulfide levels. Additionally, SLC25A14 can mediate the unidirectional transport of anions including sulfate, phosphate, (S)-malate, citrate, L-aspartate, and L-glutamate. The protein helps maintain oxidative balance through uncoupling activities and regulates ATP production by modifying mitochondrial membrane potential. It can transport protons across lipid membranes and exhibits transmembrane chloride transport to a lesser extent. SLC25A14 may influence mitochondrial respiratory efficiency and mitochondrial oxidant production.

SLC25A14 is also known as BMCP1, UCP5.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing