|Description:||Rabbit polyclonal antibody to SPG11.|
|Dilutions:||WB: 1:200 - 1:2000.|
|Immunogen:||Recombinant protein of human SPG11.|
|Formulation:||Supplied in Phosphate Buffered Saline, pH 7.30, with 0.02% Sodium Azide and 50% Glycerol.|
|Storage:||Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.|
|Function:||May play a role in neurite plasticity by maintaining cytoskeleton stability and regulating synaptic vesicle transport.|
|Tissue Specificity:||Expressed in all structures of brain, with a high expression in cerebellum. Expressed in cortical projection neurons.|
|Involvement in Disease:||Spastic paraplegia 11, autosomal recessive: A form of spastic paraplegia, 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.
Amyotrophic lateral sclerosis 5, juvenile: A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS5 is an autosomal recessive, juvenile form characterized by onset of upper and lower motor neuron signs before age 25.
Charcot-Marie-Tooth disease 2X: An autosomal recessive, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2X patients manifest a slowly progressive, peripheral neuropathy affecting the lower limbs and resulting in gait difficulties and distal sensory impairment. Some patients also have upper limb involvement.
|Cellular Location:||Cytoplasm > Cytosol. Nucleus. Cell projection > Axon. Cell projection > Dendrite.
|Synonyms:||Colorectal carcinoma associated protein Antibody
Colorectal carcinoma-associated protein Antibody
Spastic paraplegia 11 Antibody
Spastic paraplegia 11 (autosomal recessive) Antibody
Spastic paraplegia 11 protein Antibody
SPG 11 Antibody
|Information:||Target information shown above is from the UniProt Consortium.|