PREPL: a putative novel oligopeptidase propelled into the limelight.
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.
Martens
Kevin
K
Laboratory of Biochemical Neuroendocrinology, Department for Human Genetics, University of Leuven and Flanders Interuniversity Institute for Biotechnology, B-3000 Leuven, Belgium.
Derua
Rita
R
Meulemans
Sandra
S
Waelkens
Etienne
E
Jaeken
Jaak
J
Matthijs
Gert
G
Creemers
John W M
JW
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
D019151:Peptide Library; D013006:Growth Hormone; D012697:Serine Endopeptidases; C000705287:PREPL protein, human; D000085822:Prolyl Oligopeptidases