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2 Shaker Rd Suites
B001/B101
Shirley, MA 01464
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20700 44th Avenue W
Lynnwood, WA 98036
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SPG20 / SPARTIN
spastic paraplegia 20 (Troyer syndrome)
SPG20 / SPARTIN 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. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome).
| Gene Name: | spastic paraplegia 20 (Troyer syndrome) |
| Synonyms: | SPG20, KIAA0610, Spastic paraplegia 20 protein, Spartin, TAHCCP1 |
| Target Sequences: | AB011182 BAA25536.1 Q8N0X7 |
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