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Rabbit Anti-KIF1A/FITC Conjugated antibody
background:
The kinesins constitute a large family of microtubule-dependent motor proteins, which are responsible for the distribution of numerous organelles, vesicles and macromolecular complexes throughout the cell. Individual kinesin members play crucial roles in cell division, intracellular transport and membrane trafficking events including endocytosis and transcytosis. KIF1C is a member of the KIF1/Unc104 family of kinesin-like proteins, which are involved in the transport of mitochondria or synaptic vesicles in axons. The human KIF1A gene encodes a neuron-specific motor protein that delivers synaptic vesicle precursors to nerve terminals. KIF1A is a monomeric, globular molecule and has rapid anterograde motor activity (1.2 microns/s). KIF1A-mediated axonal transport plays a critical role in viability, maintenance and function of neurons, particularly mature neurons. KIF1A is associated with organelles that contain synaptic vesicle proteins such as synaptotagmin, synaptophysin and Rab 3A.
Function:
Motor for anterograde axonal transport of synaptic vesicle precursors.
Subunit:
Monomer. Interacts with PPFIA1 and PPFIA4 (By similarity).
Subcellular Location:
Cytoplasm, cytoskeleton. Note=Expressed in distal regions of neurites.
Tissue Specificity:
Expressed in neurons.
DISEASE:
Spastic paraplegia 30, autosomal recessive (SPG30) [MIM:610357]: 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. SPG30 is characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs. Note=The disease is caused by mutations affecting the gene represented in this entry.
Hereditary sensory neuropathy 2C (HSN2C) [MIM:614213]: A neurodegenerative disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs. Note=The disease is caused by mutations affecting the gene represented in this entry.
Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the kinesin-like protein family. Unc-104 subfamily.
Contains 1 FHA domain.
Contains 1 kinesin-motor domain.
Contains 1 PH domain.
Database links:
Entrez Gene: 547 Human
SwissProt: Q12756 Human
SwissProt: P33173 Mouse
Unigene: 53362 Human
Unigene: 271288 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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