Spatacsin
May play a role in neurite plasticity by maintaining cytoskeleton stability and regulating synaptic vesicle transport.
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Spatacsin
Also known as Spatacsin (Colorectal carcinoma-associated protein) (Spastic paraplegia 11 protein).
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.
Protein type: Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 15q14
Cellular Component: cytoplasm; cytoplasmic vesicle; cytosol; lysosomal membrane; nucleolus; plasma membrane; synapse
Molecular Function: protein binding
Biological Process: axon cargo transport; synaptic transmission; synaptic vesicle transport
Disease: Charcot-marie-tooth Disease, Axonal, Type 2x; Spastic Paraplegia 11, Autosomal Recessive
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.
Protein type: Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 15q14
Cellular Component: cytoplasm; cytoplasmic vesicle; cytosol; lysosomal membrane; nucleolus; plasma membrane; synapse
Molecular Function: protein binding
Biological Process: axon cargo transport; synaptic transmission; synaptic vesicle transport
Disease: Charcot-marie-tooth Disease, Axonal, Type 2x; Spastic Paraplegia 11, Autosomal Recessive
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