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2) Mice that are homozygous for a knockout of the gene for the kinesin motor pro

ID: 254766 • Letter: 2

Question

2) Mice that are homozygous for a knockout of the gene for the kinesin motor protein KIF1B die at birth. eterozygous knockouts survive, but suffer from a progressive muscle weakness similar to human europathies. Humans with Charcot-Marie-Tooth disease type 2A have a mutation in one copy of the gene or KIF1B that prevents the protein from binding ATP. The heterozygous mice and the human patients have very similar progressive neuropathies. How do you suppose that the loss of one copy of a gene for a kinesin motor can have such profound effects on nerve function?

Explanation / Answer

Kinesin is motor protein and uses ATP and by hydrolysing ATP to ADP it moves towards the plus end of microtubule. It js involved in anterograde axonal transporter and help in neurotransmitter release and their transport. It also active in ion channel and component transport which are required for synaptic release machinery and hence mutation in kinesin gene causes neuronal dysfunctioning.

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