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The protein encoded by PREPL belongs to the prolyl oligopeptidase subfamily of serine peptidases. Zusätzlich bieten wir Ihnen Prolyl Endopeptidase Like Protein Antikörper (35) und Prolyl Endopeptidase Like Protein Kits (7) und viele weitere Produktgruppen zu diesem Protein an.
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we report the first homozygous PREPL point mutation in a girl with typical PREPL deficiency. This syndrome should be considered in the differential diagnosis of hypotonic neonates exhibiting myasthenic symptoms, hyperphagia, and various degrees of ID.
Deletion of PREPL is associated with Hypotonia-cystinuria syndrome.
Two novel deletions encompassing the SLC3A1 (zeige SLC3A1 Proteine) and PREPL genes have been identified in unrelated hypotonia-cystinuria syndrome patients.
A 638-residue variant of PREPL, PREPL A, was identifiied, expressed in Escherichia coli and purified; its secondary structure was similar to that of oligopeptidase B.
Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.
Deletion of the gene results in hypotonia at birth, failure to thrive and growth hormone deficiency
a deletion of PREPL causes atypical hypotonia-cystinuria syndrome
Two key transcription factors, NRF-2 (zeige GABPA Proteine) and YY-1 (zeige YY1 Proteine), were further identified to coordinately participate in driving gene expressions of PREPL-C2ORF34 (zeige CAMKMT Proteine) genes pairin an additive manner.
The data demonstrate PREPL as an AP-1 (zeige JUN Proteine) effector that takes part in the regulation of AP-1 (zeige JUN Proteine) membrane binding. PREPL is highly expressed in brain and at lower levels in muscle and kidney.
The protein encoded by this gene 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.
putative prolyl oligopeptidase