Disease relevance of PREPL

• Several PREPL splice variants have been identified, and a 638-residue variant (PREPL A) was expressed in Escherichia coli and purified [1].
• The molecular basis of this disorder is a homozygous deletion of 179,311 bp on chromosome 2p16, which includes the type I cystinuria gene (SLC3A1), the protein phosphatase 2Cbeta gene (PP2Cbeta), an unidentified gene (KIAA0436), and several expressed sequence tags [2].

High impact information on PREPL

• In 11 patients with a recessive congenital disorder, which we refer to as "the hypotonia-cystinuria syndrome," microdeletion of part of the SLC3A1 and PREPL genes on chromosome 2p21 was found [3].
• Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome [3].
• PREPL is localized in the cytosol and shows homology with prolyl endopeptidase and oligopeptidase B [3].
• Comparison of Prepl with other autoregulated replication protein gene promoters revealed similarities, but Prepl differs from some of these characterized promoters in not being regulated by the heat-shock RNA polymerase [4].
• Primer extension analysis showed that Prepl is contained within five helically aligned 18 base pair repeats, or 18-mers of the previously defined minimal origin [4].

Biological context of PREPL

• 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 [5].

Associations of PREPL with chemical compounds

• The PREPL (previously called KIAA0436) gene encodes a putative serine peptidase from the prolyl oligopeptidase family [1].
• Unexpectedly, the PREPL A protein did not cleave peptide substrates containing a P1 basic residue, but did slowly hydrolyse an activated ester substrate, and reacted with diisopropyl fluorophosphate [1].
• This paper presents a semi-analytical expression to calculate (L/rho)medair at depths in the range of 0 to 30 g/cm2 and for any energy in the range of 4-60 MeV, for water, polystyrene, and acrylic relative to air, and another expression to calculate Prepl for any cylindrical ionization chamber with an inner diameter in the range of 3 to 7 mm [6].

Other interactions of PREPL

• An analysis of the uncertainty introduced in the TG-21 factors (L/rho, Pwall, Prepl) caused by the spread in the measured data and translated into the determination of the TPR ratio results in an insignificant error (< 0.3%) [7].

Analytical, diagnostic and therapeutic context of PREPL

• Proposed semi-analytical formulae for the determination of (L/rho)medair and Prepl for electron beams as used in radiotherapy [6].

References