NT5E mutations that cause human disease are associated with intracellular mistrafficking of NT5E protein.
Fausther M, Lavoie EG, Goree JR, Baldini G, Dranoff JA. NT5E mutations that cause human disease are associated with intracellular mistrafficking of NT5E protein. PLoS One. 2014; 9(6):e98568.