The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
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Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
Kinesin family member 5A
Kinesin heavy chain isoform 5A
Kinesin Heavy Chain Neuron Specific
Kinesin heavy chain neuron-specific 1
Neuronal kinesin heavy chain
功能Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL).
组织特异性Distributed throughout the CNS but is highly enriched in subsets of neurons.
疾病相关Defects in KIF5A are the cause of spastic paraplegia autosomal dominant type 10 (SPG10) [MIM:604187]. An inherited degenerative spinal cord disorder characterized by a slow, gradual, progressive weakness and spasticity (stiffness) of the legs. Rate of progression and the severity of symptoms is 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.
序列相似性Belongs to the kinesin-like protein family. Kinesin subfamily. Contains 1 kinesin-motor domain.
结构域Composed of three structural domains: a large globular N-terminal domain which is responsible for the motor activity of kinesin (it hydrolyzes ATP and binds microtubule), a central alpha-helical coiled coil domain that mediates the heavy chain dimerization; and a small globular C-terminal domain which interacts with other proteins (such as the kinesin light chains), vesicles and membranous organelles.
细胞定位Cytoplasm > perinuclear region. Cytoplasm > cytoskeleton. Concentrated in the cell body of the neurons, particularly in the perinuclear region.