Vacuolar Protein Sorting 13C (VPS13C)

The deduced protein contains 1,463 amino acids. RT-PCR ELISA detected VPS13C expression in all adult and fetal tissues and all specific brain regions examined. Expression was intermediate in most tissues, but it was lower in adult pancreas and lung and in fetal liver and brain.Variant 1A encodes a deduced 3,710-amino acid protein, and variant 2A encodes a deduced 3,753-amino acid protein. VPS13C shares significant similarity with yeast Vps13 and other human VPS13 proteins, mostly in the N and C termini. Northern blot analysis detected expression of variant 1A in all tissues tested, whereas variant 2A was expressed only in brain, although at a higher level than variant 1A.VPS13C gene contains 86 exons, including 1 alternative exon (exon 81b), and spans 208 kb.