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: 15q21.1
Cellular Component:  axon; cytoplasm; cytoplasmic vesicle; cytosol; dendrite; nucleolus; plasma membrane; synapse
Molecular Function:  protein binding
Biological Process:  axo-dendritic transport; axon extension; chemical synaptic transmission; phagosome-lysosome fusion involved in apoptotic cell clearance; synaptic vesicle transport; walking behavior
Disease: Amyotrophic Lateral Sclerosis 5, Juvenile; Charcot-marie-tooth Disease, Axonal, Type 2x; Spastic Paraplegia 11, Autosomal Recessive
Reference #:  Q96JI7 (UniProtKB)
Alt. Names/Synonyms: Colorectal carcinoma-associated protein; DKFZp762B1512; FLJ21439; KIAA1840; spastic paraplegia 11 (autosomal recessive); Spastic paraplegia 11 protein; Spatacsin; SPG11; SPTCS
Gene Symbols: SPG11
Molecular weight: 278,868 Da
Basal Isoelectric point: 5.63  Predict pI for various phosphorylation states
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SPG11

Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  InnateDB  |  Ensembl Protein