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PREPL belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.
The longest deduced protein contains 727 amino acids and has a propeller domain in its N-terminal half and a catalytic domain, including the catalytic triad (ser, asp, his) essential for serine peptidases, in its C-terminal half. In sharp contrast to PREP and oligopeptidase B, which require both amino- and carboxy-terminal sequences for activity, PREPL activity appeared to depend only on the carboxy-terminal domain.
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