PREPL Antibody, FITC conjugated
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Product Specs
Buffer
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Form
Liquid
Lead Time
Typically, we can ship your orders within 1-3 business days of receipt. Delivery times may vary depending on the purchase method and location. Please consult your local distributor for specific delivery details.
Synonyms
PPCEL_HUMAN antibody; prepl antibody; Prolyl endopeptidase-like antibody; Prolylendopeptidase-like antibody; putative prolyl oligopeptidase antibody
Target Names
PREPL
Uniprot No.
Target Background
Function
PREPL is a serine peptidase with a precise substrate specificity that remains unclear. It does not cleave peptides following arginine or lysine residues. PREPL regulates trans-Golgi network morphology and sorting by controlling the membrane binding of the AP-1 complex. This protein may also play a role in regulating synaptic vesicle exocytosis.
Gene References Into Functions
- 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 varying degrees of intellectual disability. PMID: 29483676
- Deletion of PREPL is associated with Hypotonia-cystinuria syndrome. PMID: 23794250
- Two novel deletions encompassing the SLC3A1 and PREPL genes have been identified in unrelated hypotonia-cystinuria syndrome patients. PMID: 22796000
- Description of L-leucine transport into bladder carcinoma cells. PMID: 12225859
- A 638-residue variant of PREPL, PREPL A, was identified, expressed in Escherichia coli, and purified. Its secondary structure was similar to that of oligopeptidase B. PMID: 16143824
- Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. PMID: 16385448
- Deletion of the gene results in hypotonia at birth, failure to thrive, and growth hormone deficiency. PMID: 16913837
- A deletion of PREPL causes atypical hypotonia-cystinuria syndrome. PMID: 18234729
Database Links
Involvement In Disease
Hypotonia-cystinuria syndrome (HCS); Myasthenic syndrome, congenital, 22 (CMS22)
Protein Families
Peptidase S9A family
Subcellular Location
Cytoplasm, cytosol. Golgi apparatus, trans-Golgi network. Cytoplasm, cytoskeleton. Golgi apparatus. Nucleus.
Tissue Specificity
Expressed in pyramidal neurons of the temporal cortex and neocortex (at protein level). Widely expressed. Expressed at higher level in brain, skeletal muscle, heart and kidney. Expressed at the endplates in the neuromuscular junction.
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