SLC25 is a gene that is essential for the synthesis of a wide range of mitochondrial transporters, such as citrate shuttle. Mutations in this gene can result in dysfunctional mitochondria. This leads to significant decrease in the energy production of our body cells, causing severe metabolic diseases. It can cause severe symptoms in organs or tissues that have high energy demand. These organs include the liver, brain, heart, kidneys. They require abundant functional mitochondria to function. Mitochondrial disorders caused by defective or reduced SLC25 gene expression can cause diseases, such as CAC deficiency, HHH syndrome, AGC2 deficiency (CTLN2/NICCD), , Congenital Amish microcephaly, Early epileptic encephalopathy, AAC1 deficiency, PiC (isoform A) deficiency, AGC1 deficiency, Neuropathy with striatal necrosis, and Congenital sideroblastic anaemia.
In addition, SLC25 gene is crucial for the survival of organisms because of its high frequency in the genomics of different organisms. It indicates that this gene is favourable for the survival of a species in response to the environmental features, so it is preserved and passed along the generation. In other words, the gene is positively selected for evolution. Not only is SLC25 gene found in humans, but also in other animals, or even microorganisms like bacteria and viruses. It shows that this gene is conserved among different species. This might provide evidence for the significance and essentiality of the gene in the survival of organisms.