Overview

spatacsin


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A protein (predicted 2443 aa) that is defective in hereditary spastic paraplegia type 11 (SPG11). The name is from ‘spasticity with thin or atrophied corpus callosum syndrome’. There are four putative transmembrane domains, suggesting it may be a receptor or transporter. The SPG11 gene is expressed ubiquitously in the nervous system but most prominently in the cerebellum, cerebral cortex, hippocampus, and pineal gland.

Subjects: Medicine and Health.


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