KIF1B : kinesin family member 1B
Description
The KIF1B (kinesin family member 1B) is a protein-coding gene located on chromosome 1.
The KIF1B gene provides instructions for making a protein called kinesin family member 1B, a member of the kinesin protein family. These proteins are crucial for transporting materials within cells, acting like freight trains carrying cargo along microtubule tracks. KIF1B protein specializes in carrying two types of cargo: synaptic vesicles, containing materials for nerve impulse transmission, in nerve cells (neurons); and energy-producing mitochondria in other cell types. Besides transport functions, KIF1B seems to be involved in programmed cell death (apoptosis), a common process helping the body eliminate unnecessary cells.
Motor protein involved in anterograde transport of mitochondria. Exhibits plus-end-directed movement along microtubules. Isoform 2 plays a crucial role in triggering neuronal apoptosis.
KIF1B is also known as CMT2, CMT2A, CMT2A1, HMSNII, KLP, NBLST1.
Associated Diseases
- Neuroblastoma, susceptibility to
- Hereditary pheochromocytoma-paraganglioma
- Charcot-Marie-Tooth disease, axonal, type 2A1
- Charcot-Marie-Tooth disease
- Neuroblastoma
- Nonsyndromic paraganglioma
