gene, a homozygous mutation (c.215G>A) in the alternatively spliced exon 3A of this gene caused an amino acid replacement (G72E) in Isoform A. This leads to ATP synthase deficiency in muscle cells, which express Isoform A, but not in fibroblasts, which express Isoform B, causing MPCD and the aforementioned standard symptoms. Interactions The encoded protein interacts with PPIF; this interaction is impaired by CsA. See also Solute carrier family References Further reading Solute carrier family