Description
Product Characteristics: Recombinant human Spartin / SPG20 (transcript variant 4) protein expressed in HEK293 cells. Produced with end-sequenced ORF clone
antibodies-online can provide customization with regards to expression system, tag location and sequence for our made to order proteins designed and produced in Germany. Please contact our customer support for further information.:
Target Information: 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]