Disease relevance of ISYNA1

• A significant interaction was demonstrated between a maternal glucose < 4.5 mmol/L and ISYNA1 1029A > G polymorphism on spina bifida risk [1].

High impact information on ISYNA1

• In mothers, fathers, and spina bifida children polymorphisms determined were SLC5A11 (544C > T), ISYNA1 (1029A > G), and SLC39A4 (1069C > T) [1].
• Here, we have characterized the minimal promoter of ISYNA1 and show that it is upregulated by E2F1 [2].
• CONCLUSION: The combination of maternal glucose < 4.5 mmol/L and ISYNA1 1029A > G polymorphism protects against spina bifida offspring [1].
• E2F1 regulation of the human myo-inositol 1-phosphate synthase (ISYNA1) gene promoter [2].
• Because the -117 E2F motif is not a high-affinity binding site, we propose that the upregulation of ISYNA1 occurs through the cooperative interaction of several low-affinity E2F binding motifs present in the minimal promoter [2].

Chemical compound and disease context of ISYNA1

• We investigated the biochemical concentrations of these nutrients and polymorphisms in the myo-inositol transporter SLC5A11, myo-inositol synthase ISYNA1, and zinc transporter SLC39A4 in association with spina bifida risk [1].

Associations of ISYNA1 with chemical compounds

• Human myo-inositol 1-phosphate synthase (IP synthase; E.C. 5.5.1.4), encoded by ISYNA1, catalyzes the de novo synthesis of inositol 1-phosphate from glucose 6-phosphate [2].

References