O60333

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. KIF1B is a member of the KIF1/Unc104 family of kinesin-like proteins that are involved in the transport of mitochondria or synaptic vesicles in axons. KIF1B is an amino-terminal-type motor protein that is ubiquitously expressed, with the most abundant levels in differentiated nerve cells. The human KIF1B gene maps to chromosome 1p36. 2. Defects in axonal transport due to mutations at the KIF1B gene can underlie the human peripheral neuropathy phenotype. The mouse KIF1B gene generates an alternatively spliced transcript, which produces two isoforms.