功能： disease:Defects in KIF5A are the cause of spastic paraplegia type 10 (SPG10) [MIM:604187]. SPG10 is a form of autosomal dominant hereditary spastic paraplegia (AD-HSP). HSP is a group of inherited degenerative spinal cord disorders 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.,domain: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.,function:Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL).,similarity:Belongs to the kinesin-like protein family. Kinesin subfamily.,similarity:Contains 1 kinesin-motor domain.,subcellular location:Concentrated in the cell body of the neurons, particularly in the perinuclear region.,subunit:Oligomer composed of two heavy chains and two light chains. Interacts with GRIP1.,tissue specificity:Distributed throughout the CNS but is highly enriched in subsets of neurons.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm, perinuclear region . Cytoplasm, cytoskeleton . Perikaryon . Concentrated in the cell body of the neurons, particularly in the perinuclear region. .
组织表达： Distributed throughout the CNS but is highly enriched in subsets of neurons.
功能： disease:Defects in KIF5A are the cause of spastic paraplegia type 10 (SPG10) [MIM:604187]. SPG10 is a form of autosomal dominant hereditary spastic paraplegia (AD-HSP). HSP is a group of inherited degenerative spinal cord disorders 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.,domain: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.,function:Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL).,similarity:Belongs to the kinesin-like protein family. Kinesin subfamily.,similarity:Contains 1 kinesin-motor domain.,subcellular location:Concentrated in the cell body of the neurons, particularly in the perinuclear region.,subunit:Oligomer composed of two heavy chains and two light chains. Interacts with GRIP1.,tissue specificity:Distributed throughout the CNS but is highly enriched in subsets of neurons.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm, perinuclear region . Cytoplasm, cytoskeleton . Perikaryon . Concentrated in the cell body of the neurons, particularly in the perinuclear region. .
组织表达： Distributed throughout the CNS but is highly enriched in subsets of neurons.
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