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The prolyl endopeptidase-like protein PREPL has recently attracted attention because its gene is located within two contiguous gene-deletion syndromes, the 2p21 deletion syndrome and the hypotonia-cystinuria syndrome. Deletion of the gene results in hypotonia at birth, failure to thrive and growth hormone deficiency. PREPL is highly reactive against an activity-based probe, which indicates the presence of an intact catalytic machinery. However, no substrate has been found yet. The unique carboxy-terminus of the catalytic domain might contain the key to the as yet elusive specificity.

PREPL: a putative novel oligopeptidase propelled into the limelight