Ontology highlight
ABSTRACT:
SUBMITTER: Kozlov G
PROVIDER: S-EPMC3121481 | biostudies-literature | 2011 Jun
REPOSITORIES: biostudies-literature
Kozlov Guennadi G Denisov Alexey Y AY Girard Martine M Dicaire Marie-Josée MJ Hamlin Jason J McPherson Peter S PS Brais Bernard B Gehring Kalle K
The Journal of biological chemistry 20110420 23
Sacsin is a 520-kDa protein mutated in the early-onset neurodevelopmental and neurodegenerative disease autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The C terminus of the protein contains an HEPN (higher eukaryotes and prokaryotes nucleotide-binding) domain of unknown function. Here, we determined the high-resolution 1.9-Å crystal structure of the HEPN domain from human sacsin. The structure is composed of five parallel α-helices with a large loop of several short helical ...[more]