VMA21 deficiency: a case of myocyte indigestion.
The Vma21p protein in yeast is an essential assembly chaperone for the vacuolar ATPase, the major proton pump of cellular membranes. In this issue, Ramachandran et al. (2009) report that mutations in the gene encoding the human homolog VMA21 cause the disease X-linked myopathy with excessive autophagy through an unexpected mechanism.
Hirano
Michio
M
Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA. mh29@columbia.edu
DiMauro
Salvatore
S
D001343:Autophagy; D050172:Genes, X-Linked; D006801:Humans; D008565:Membrane Proteins / Q000378:metabolism; D009135:Muscular Diseases / Q000235:genetics*; D012441:Saccharomyces cerevisiae / Q000378:metabolism; D029701:Saccharomyces cerevisiae Proteins / Q000378:metabolism; D025262:Vacuolar Proton-Translocating ATPases / Q000235:genetics / Q000378:metabolism*
D008565:Membrane Proteins; D029701:Saccharomyces cerevisiae Proteins; C091909:VMA21 protein, S cerevisiae; C540401:VMA21 protein, human; D025262:Vacuolar Proton-Translocating ATPases