The signature motif in human glucose-6-phosphate transporter is essential for microsomal transport of glucose-6-phosphate

Chi Jiunn Pan, Li Yuan Chen, Brian C. Mansfield, Barbara Salani, Luigi Varesio, Janice Yang Chou

Research output: Contribution to journalArticle

Abstract

Glycogen storage disease type Ib (GSD-Ib) is caused by a deficiency in the glucose-6-phosphate transporter (G6PT). Sequence alignments identify a signature motif shared by G6PT and a family of transporters of phosphorylated metabolites. Two null signature motif mutations have been identified in the G6PT gene of GSD-Ib patients. In this study, we characterize the activity of seven additional mutants within the motif. Five mutants lack microsomal G6P uptake activity and one retains residual activity, suggesting that in G6PT the signature motif is a functional element required for microsomal glucose-6-phosphate transport.

Original languageEnglish
Pages (from-to)430-433
Number of pages4
JournalHuman Genetics
Volume112
Issue number4
Publication statusPublished - Apr 2003

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ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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