SPG11 Defects in SPG11 are the cause of spastic paraplegia autosomal recessive type 11 (SPG11). 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. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 2|2 E5
Cellular Component:  axon; cell junction; cell projection; cytoplasm; cytoplasmic vesicle; cytosol; dendrite; nucleolus; nucleus; plasma membrane; synapse
Biological Process:  axo-dendritic transport; axon extension; axonogenesis; chemical synaptic transmission; lysosome organization; phagosome-lysosome fusion involved in apoptotic cell clearance; regulation of synaptic plasticity; synaptic vesicle transport; walking behavior
Reference #:  Q3UHA3 (UniProtKB)
Alt. Names/Synonyms: 6030465E24Rik; A330015I11; C530005A01Rik; Kiaa1840; spastic paraplegia 11; Spastic paraplegia 11 protein homolog; Spatacsin; Spg11; SPTCS
Gene Symbols: Spg11
Molecular weight: 273,934 Da
Basal Isoelectric point: 5.61  Predict pI for various phosphorylation states
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Protein Structure Not Found.

Cross-references to other databases:  STRING  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene