PREPL: a putative novel oligopeptidase propelled into the limelight.

Kevin Martens, Rita Derua, Sandra Meulemans, Etienne Waelkens, Jaak Jaeken, Gert Matthijs, John W M Creemers

Journal: Biological chemistry 2006;387(7):879-83

PMID: 16913837

Full Text on Ovid Technologies, Inc. View on PubMed

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.

Address: Laboratory of Biochemical Neuroendocrinology, Department for Human Genetics, University of Leuven and Flanders Interuniversity Institute for Biotechnology, B-3000 Leuven, Belgium.

DOI: 10.1515/BC.2006.111

Link outs

Free resources

Other Literature Sources:

https://www.lens.org/lens/search/patent/list?q=ref...

Subscription / membership required

Full Text Sources:

MeSH Terms: Amino Acid Sequence, Chromosomes, Human, Pair 2, Failure to Thrive, Gene Deletion, Growth Hormone, Humans, Hydrolysis, Molecular Sequence Data, Muscle Hypotonia, Peptide Library, Prolyl Oligopeptidases, Sequence Homology, Amino Acid, Serine Endopeptidases, Substrate Specificity, Syndrome