Lafora disease E3-ubiquitin ligase malin is related to TRIM32 at both the phylogenetic and functional level.

ABSTRACT:

Background

Malin is an E3-ubiquitin ligase that is mutated in Lafora disease, a fatal form of progressive myoclonus epilepsy. In order to perform its function, malin forms a functional complex with laforin, a glucan phosphatase that facilitates targeting of malin to its corresponding substrates. While laforin phylogeny has been studied, there are no data on the evolutionary lineage of malin.

Results

After an extensive search for malin orthologs, we found that malin is present in all vertebrate species and a cephalochordate, in contrast with the broader species distribution previously reported for laforin. These data suggest that in addition to forming a functional complex, laforin and perhaps malin may also have independent functions. In addition, we found that malin shares

SUBMITTER: Roma-Mateo C 

PROVIDER: S-EPMC3160408 | biostudies-literature | 2011 Jul

REPOSITORIES: biostudies-literature