Hailey-Hailey disease as an orthodisease of PMR1 deficiency in Saccharomyces cerevisiae.

@article{Kellermayer2005HaileyHaileyDA,
  title={Hailey-Hailey disease as an orthodisease of PMR1 deficiency in Saccharomyces cerevisiae.},
  author={Rich{\'a}rd Kellermayer},
  journal={FEBS letters},
  year={2005},
  volume={579 10},
  pages={2021-5}
}
The term orthodisease has recently been introduced to define human disorders in which the pathogenic gene has orthologs in model organism genomes. Here, we describe Hailey-Hailey disease (HHD), a blistering skin disorder caused by haploinsufficiency of ATP2C1 as an orthodisease from a Saccharomyces cerevisiae perspective. ATP2C1 encodes the human secretory pathway Ca(2+)/Mn(2+) ATPase hSPCA1 and is orthologous to the PMR1 gene in S. cerevisiae. hSPCA1 fully complements PMR1 deficiency in yeast… CONTINUE READING