KIF5C and Associated Diseases
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Overview of KIF5C
In humans, kinesin heavy chain isoform 5C (KIF5C, also known as kinesin family member 5C or Kinesin-1) is a protein encoded by the KIF5C gene. KIF5C interacts with protein kinase CK2 in the form of a tetramer consisting of two light chains, KIF5C, and another heavy chain. KIF5C functions in the transportation of cargo within the central nervous system as a kinesin heavy chain subunit. Mutations of KIF5C have been reported that there is a relationship with the brain disease such as complex cortical dysplasia. Two transcript variants of KIF5C have been found, one is protein-coding and the other is non-protein coding.
KIF5C in Disease
Diseases associated with KIF5C include cortical dysplasia, malformation of cortical development, and viral infection.
- Malformation of cortical development
KIF5C is a pathogenic factor of malformation of cortical development (MCD). MCD includes a variety of developmental disorders which cause neurodevelopmental delay. Patients with KIF5C mutations present early symptoms of MCD. The expression of KIF5C is found in the early developmental stage of the mouse brain and human iPSC-derived forebrain organoids. KIF5C deficiency results in abnormal cortical neuronal migration and dendritic branching. Knockdown of KIF5C affects the expression of cortical neuronal development-associated genes. These results indicate that KIF5C plays a critical role in cortical development.
- Viral infection
KIF5C can promote viral infection. Usually, the nuclear pore complex (NPC) functions to regulate the passage of solutes, proteins, and nucleic acids by its size restrictions. Before the viral DNA access the nucleus, the uncoating of the viral capsid is needed. The viral capsids docked at nucleoporin Nup214 of the nuclear envelope can be disrupted by KIF5C, which also compromises the NPC. Compromised NPC will increase the nuclear envelope permeability. Based on this, KIF5C allows the access of viral genomes into the nuclear and promotes infection by uncoating the viral capsid and compromising the nuclear envelope.
Fig.1 Model for KIF5C-mediated virus infection at the NPC. (Strunze, 2011)
Creative Biolabs are proficient in each process of gene therapy development. Choosing us can definitely speed up your research for clinical application. As a CRO, we aim to provide a full range of services for your gene therapy-associated projects. Please feel free to contact us for more about your KIF5C project.
References
- Li, W.; et al. KIF5C deficiency causes abnormal cortical neuronal migration, dendritic branching, and spine morphology in mice. Pediatr Res. 2022, 92: 995–1002.
- Strunze, S.; et al. Kinesin-1-Mediated Capsid Disassembly and Disruption of the Nuclear Pore Complex Promote Virus Infection. Cell Host & Microbe. 2011, 10: 210–223.
