Human spastic paraplegia 20 (Troyer syndrome) ELISA Kit | SPG20 elisa kit
Human Spartin, SPG20 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
SPG20: May be implicated in endosomal trafficking, or microtubule dynamics, or both. Defects in SPG20 are the cause of spastic paraplegia autosomal recessive type 20 (SPG20); also known as Troyer syndrome (TRS). Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG20 is characterized by dysarthria, distal amyotrophy, mild developmental delay and short stature.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 13q13.3
Cellular Component: mitochondrial outer membrane; cytoplasm; plasma membrane; lipid particle; synapse; midbody
Molecular Function: protein binding; ubiquitin protein ligase binding
Biological Process: negative regulation of collateral sprouting in the absence of injury; regulation of mitochondrial membrane potential; cell division; neuromuscular process; abscission; negative regulation of BMP signaling pathway
Disease: Spastic Paraplegia 20, Autosomal Recessive