HIKESHI Chromosome 11

Heat shock protein nuclear import factor hikeshi
5 variants 5 Health Risk

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What This Gene Does
This gene encodes an evolutionarily conserved nuclear transport receptor that mediates heat-shock-induced nuclear import of 70 kDa heat-shock proteins (Hsp70s) through interactions with FG-nucleoporins. The protein mediates transport of the ATP form but not the ADP form of Hsp70 proteins under conditions of heat shock stress. Structural analyses demonstrate that the protein forms an asymmetric homodimer and that the N-terminal domain consists of a jelly-roll/beta-sandwich fold structure that contains hydrophobic pockets involved in FG-nucleoporin recognition. Reduction of RNA expression levels in HeLa cells using small interfering RNAs results in inhibition of heat shock-induced nuclear accumulation of Hsp70s, indicating a role for this gene in regulation of Hsp70 nuclear import during heat shock stress. [provided by RefSeq, Apr 2016]
Associated Conditions (3)
Inborn genetic diseases
Hypomyelinating leukodystrophy 13
HIKESHI-related disorder
Key Variants
All Variants (5)
RSID Category Clinical Significance Conditions
RS1387003933 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1057520064 Health Risk Likely pathogenic
RS2496157331 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 13, Hypomyelinating leukodystrophy 13
RS759061923 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 13, Hypomyelinating leukodystrophy 13
RS202003795 Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 13, HIKESHI-related disorder, Hypomyelinating leukodystrophy 13
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