Structure and mutation analysis of the glycogen storage disease type Ib gene

Glycogen storage disease (GSD) 1b is the deficiency of endoplasmic reticulum glucosed-phosphate (G6P) transport. We here report the structure of the gene encoding a protein likely to be responsible for G6P transport, and its mapping to human chromosome 11q23.3, The gene is composed of nine exons spanning a genomic region of approximately 4 kb, Primers based on the genomic sequence were used in single strand conformation polymorphism (SSCP) analysis and mutations mere found in sis out of seven GSD 1b patients analysed. (C) 1998 Federation of European Biochemical Societies.