Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency

ConclusionLoss of GPI-anchored proteins on our patients' cells confirms that the yeast Arv1 function of GPI-anchor synthesis is conserved in humans. Overlap between the phenotypes in our patients and those reported for other GPI-anchor disorders suggests that ARV1-deficiency is a GPI-anchor synthesis disorder.
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research