Vacuolar Protein Sorting 13A (VPS13A)

VPS13A gene contains 73 exons and spans 250 kb. In the choreoacanthocytosis critical region on chromosome 9q, Rampoldi et al. (2001) identified the VPS13A gene, which they called CHAC. They identified 2 splice variants: transcript A, which contains exons 1 to 68 and 70 to 73 and encodes a 3,174-amino acid protein, and transcript B, which contains exons 1 to 69 and encodes a 3,095-amino acid protein. Northern blot analysis detected 2 bands of high molecular mass corresponding to the 2 splice variants in all tissues analyzed. Additionally, RT-PCR detected expression in the erythrocyte precursor cell line K562. Rampoldi et al. (2001) showed that the CHAC gene encodes an evolutionarily conserved protein, which may be involved in protein sorting.