KIF1C
Description
The KIF1C (kinesin family member 1C) is a protein-coding gene located on chromosome 17.
KIF1C is a protein that moves along microtubules towards the plus end. It is involved in transporting α5β1-integrins in human cells. While KIF1C is not essential for life in mice, mutations in this gene in humans can cause spastic paraplegia and cerebellar dysfunction. These mutations lead to a loss of function, resulting in reduced force production or complete absence of the protein. KIF1C is a dimer held in an inactive state by an interaction between its stalk and the motor domain. The binding of PTPN21 or HOOK3 to the stalk releases the motor domain, enabling it to bind to microtubules and begin transport.
KIF1C is also known as LTXS1, SATX2, SAX2, SPAX2, SPG58.
