Aliases for SPG20 Gene
External Ids for SPG20 Gene
Previous GeneCards Identifiers for SPG20 Gene
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]
GeneCards Summary for SPG20 Gene
SPG20 (Spastic Paraplegia 20 (Troyer Syndrome)) is a Protein Coding gene. Diseases associated with SPG20 include troyer syndrome and paraplegia. Among its related pathways are Endocytosis. GO annotations related to this gene include ubiquitin protein ligase binding.
UniProtKB/Swiss-Prot for SPG20 Gene
May be implicated in endosomal trafficking, or microtubule dynamics, or both. Participates in cytokinesis (PubMed:20719964).