title: PREPL: a putative novel oligopeptidase propelled into the limelight.
abstract: 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.
authors.affiliation: Laboratory of Biochemical Neuroendocrinology, Department for Human Genetics, University of Leuven and Flanders Interuniversity Institute for Biotechnology, B-3000 Leuven, Belgium.
authors.forename: Kevin
authors.initials: K
authors.lastname: Martens
authors.forename: Rita
authors.initials: R
authors.lastname: Derua
authors.forename: Sandra
authors.initials: S
authors.lastname: Meulemans
authors.forename: Etienne
authors.initials: E
authors.lastname: Waelkens
authors.forename: Jaak
authors.initials: J
authors.lastname: Jaeken
authors.forename: Gert
authors.initials: G
authors.lastname: Matthijs
authors.forename: John W M
authors.initials: JW
authors.lastname: Creemers
mesh_terms: D000595:Amino Acid Sequence; D002889:Chromosomes, Human, Pair 2; D005183:Failure to Thrive / Q000235:genetics; D017353:Gene Deletion; D013006:Growth Hormone / Q000172:deficiency; D006801:Humans; D006868:Hydrolysis; D008969:Molecular Sequence Data; D009123:Muscle Hypotonia / Q000235:genetics; D019151:Peptide Library; D000085822:Prolyl Oligopeptidases; D017386:Sequence Homology, Amino Acid; D012697:Serine Endopeptidases / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D013379:Substrate Specificity; D013577:Syndrome
chemical_list: D019151:Peptide Library; D013006:Growth Hormone; D012697:Serine Endopeptidases; C000705287:PREPL protein, human; D000085822:Prolyl Oligopeptidases