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A novel homozygous variant in HIKESHI was identified in a patient with hypomyelinating leukoencephalopathy with periventricular cysts and vermian atrophy. Modified interactions inside Hikeshi's hydrophobic pockets induce mutant protein instability.
Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene.P.V54L mutation in Hikeshi is associated with absence of nuclear HSP70 (show HSP70 Proteins) during heat shock stress.
The crystal structure of Hikeshi explains how Hikeshi participates in the regulation of nuclear import through the recognition of FG-Nups and which part of Hikeshi affects its binding to Hsp70 (show HSP70 Proteins).
identify a nuclear import pathway that operates during heat shock stress and is mediated by an evolutionarily conserved protein, Hikeshi (coded by the C11orf73 gene) binds to FG-Nups and translocates through nuclear pores on its own, showing characteristic features of nuclear transport carriers.
Acts as a specific nuclear import carrier for hsp70 nucleoporin-dependent translocation of ATP-bound hsp70 proteins into the nucleus. hsp70 proteins import is required to protect cells from heat shock damages (By similarity).
, lethal, Chr 7, Rinchik 6