SLC25A27

Description

The SLC25A27 (solute carrier family 25 member 27) is a protein-coding gene located on chromosome 6.

SLC25A27 (also known as UCP4) is a protein that is encoded by the human gene SLC25A27. It belongs to the mitochondrial anion carrier protein family and is involved in uncoupling oxidative phosphorylation from ATP synthesis, dissipating energy as heat (mitochondrial proton leak). SLC25A27 facilitates the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. It also reduces the mitochondrial membrane potential in mammalian cells. SLC25A27 expression is specific to brain tissue and its activity is modulated by various environmental conditions. Its proton transport activity is activated by fatty acids and inhibited by purine nucleotides. SLC25A27 has a distinct conformation compared to other members of the UCP family.

SLC25A27, also known as UCP4, is involved in proton transport across the inner mitochondrial membrane. It may dissipate excessive proton gradients associated with oxidative and metabolic stress at neuronal synapses. This protein regulates glutamate-induced proton conductance in astrocytes, shifting the energy metabolism toward aerobic glycolysis and lactate transfer to neurons for ATP synthesis. SLC25A27 can also transport chloride ions, but with lower efficiency. The exact transport mechanism remains to be elucidated. {ECO:0000250|UniProtKB:Q9D6D0, ECO:0000269|PubMed:10025957, ECO:0000269|PubMed:22524567, ECO:0000269|PubMed:26182433}

SLC25A27 is also known as UCP4.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing