XB-FEAT-990804

spart

This is the community wiki page for the gene spg20 please feel free to add any information that is relevant to this gene that is not already captured spart in Xenbase

nomenclature changes

06/05/2017 Human symbol has changed for genepage ID: 990804 From spg20 to SPART

Human symbol has changed for Entrez Gene: 23111. From SPG20 to SPART

Human name has changed for Entrez Gene: 23111. From spastic paraplegia 20 (Troyer syndrome) to spartin

summary

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]