Overview

spastizin


Show Summary Details

Quick Reference

A widely distributed protein (zinc finger FYVE domain-containing protein-26, ZFYVE26, 2539 aa) that probably has a role in endosomal trafficking. Mutations in spastizin cause autosomal recessive hereditary spastic paraplegia type 15 (SPG15; Kjellin's syndrome).

Subjects: Medicine and Health.


Reference entries

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.