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The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this family are proprotein convertases that process latent precursor proteins into their biologically active products. This encoded protein is a type I proinsulin-processing enzyme that plays a key role in regulating insulin biosynthesis. It is also known to cleave proopiomelanocortin, prorenin, proenkephalin, prodynorphin, prosomatostatin and progastrin. Mutations in this gene are thought to cause obesity. This encoded protein is associated with carcinoid tumors. The use of alternate polyadenylation sites has been found for this gene. Multiple alternatively spliced transcript variants have been described for this gene but their full length nature is not known. Data suggest that proprotein convertase 1, presumably in the enteroendocrine cells, is essential for the normal absorptive function of the human small intestine. PC1 is present in the human cortex to fulfill its role in proteolytic processing of neuropeptide precursors; no significant change in PC1 levels is observed in Alzheimer patients. Polymorphism associated with insulin resistance affects insulin snssitivity by interacting with PPARgamma2. Prominently expressed in PTHrP-expressing human cancer cell lines originating from tumors of the breast, lung, prostate, as well as lymphoma. Results have implications for the mechanism of granule sorting of PC3 as well as for the topology of PC2 and carboxypeptidase E, which have been reported to span the lipid membrane by homologous charged sequences.
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