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]
Function:
SPG20 is 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.
Subunit:
Interacts with ITCH and WWP1.
DISEASE:
Interacts with ITCH and WWP1.
Similarity:
Contains 1 MIT domain.
SWISS:
Q8N0X7
Gene ID:
23111
Database links:
Entrez Gene: 23111 Human
Entrez Gene: 229285 Mouse
Entrez Gene: 295053 Rat
Omim: 607111 Human
SwissProt: Q8N0X7 Human
SwissProt: Q8R1X6 Mouse
|
|
