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The Leu34Phe ProCART Mutation Leads to Cocaine- and Amphetamine-Regulated Transcript (CART) Deficiency: A Possible Cause for Obesity in Humans
Cocaine-and amphetamine-regulated transcript (CART) is an anorexigenic neuropeptide synthesized in the hypothalamus. A Leu34Phe missense mutation in proCART has been found in an obese family in humans. Here we show that humans bearing the Leu34Phe mutation in proCART have severely diminished levels of bioactive CART, but elevated amounts of partially processed proCART in their serum. Expression of wildtype proCART in AtT-20 cells showed that it was sorted to the regulated secretory pathway, adoi:10.1210/en.2005-0812 pmid:16210370 fatcat:vgcr5htdxbeunehtzdsuq7cdoy