The Sac domain-containing phosphoinositide phosphatases: structure, function, and disease.

ABSTRACT: Phosphoinositides (PIs) have long been known to have an essential role in cell physiology. Their intracellular localization and concentration must be tightly regulated for their proper function. This spatial and temporal regulation is achieved by a large number of PI kinases and phosphatases that are present throughout eukaryotic species. One family of these enzymes contains a conserved PI phosphatase domain termed Sac. Although the Sac domain is homologous among different Sac domain-containing proteins, all appear to exhibit varied substrate specificity and subcellular localization. Dysfunctions in several members of this family are implicated in a range of human diseases such as cardiac hypertrophy, bipolar disorder, Down's syndrome, Charcot-Marie-Tooth disease (CMT) and Amyotrophic Late

SUBMITTER: Hsu F 

PROVIDER: S-EPMC4031025 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature