Ontology highlight
ABSTRACT:
SUBMITTER: Gamberucci A
PROVIDER: S-EPMC5578206 | biostudies-literature | 2017 Aug
REPOSITORIES: biostudies-literature
Gamberucci Alessandra A Marcolongo Paola P Németh Csilla E CE Zoppi Nicoletta N Szarka András A Chiarelli Nicola N Hegedűs Tamás T Ritelli Marco M Carini Giulia G Willaert Andy A Callewaert Bert L BL Coucke Paul J PJ Benedetti Angiolo A Margittai Éva É Fulceri Rosella R Bánhegyi Gábor G Colombi Marina M
International journal of molecular sciences 20170822 8
GLUT10 belongs to a family of transporters that catalyze the uptake of sugars/polyols by facilitated diffusion. Loss-of-function mutations in the <i>SLC2A10</i> gene encoding GLUT10 are responsible for arterial tortuosity syndrome (ATS). Since subcellular distribution of the transporter is dubious, we aimed to clarify the localization of GLUT10. In silico GLUT10 localization prediction suggested its presence in the endoplasmic reticulum (ER). Immunoblotting showed the presence of GLUT10 protein ...[more]