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SPG20

Chr 13AR

spartin

Also known as: SPG20, TAHCCP1

NCBI Gene: 23111 UniProt: Q8N0X7 OMIM: 275900

The protein encoded by this gene is a lipophagy receptor that regulates lipid droplet turnover in motor neurons and participates in endosomal trafficking and cytokinesis. Mutations cause Troyer syndrome, an autosomal recessive spastic paraplegia characterized by progressive spasticity primarily affecting the lower limbs. This condition typically presents in childhood and represents a form of hereditary spastic paraplegia with additional neurological features.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008]

GeneReviews OMIM ResearchGenerating clinical summary…