PARK21

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The TMEM230 gene at 20p13-p12 encodes a 120 amino acid peptide transmembrane protein 230 which has two isoforms produced by alternative splicing. This is a transmembrane protein found lining secretory/recycling vesicles, including synaptic vesicles in neurons.

PARK21 OMIM:616361, a form of familial Parkinsons's disease, is caused by disease-linked TMEM230 mutants which have an impairment of synaptic vesicle trafficking[1].

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