HIKESHI
Function
Acts as a specific nuclear import carrier for HSP70 proteins following heat-shock stress: acts by mediating the nucleoporin-dependent translocation of ATP-bound HSP70 proteins into the nucleus. HSP70 proteins import is required to protect cells from heat shock damages. Does not translocate ADP-bound HSP70 proteins into the nucleus.
Involvement in disease
Leukodystrophy, hypomyelinating, 13
HLD13
An autosomal recessive neurodegenerative disorder with infantile onset, affecting mainly the central white matter. Clinical features include early feeding difficulties, global developmental delay, postnatal progressive microcephaly, truncal hypotonia, spasticity, and variable neurologic deficits, such as visual impairment.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the OPI10 family.
Cellular localization
- Cytoplasm
- Cytoplasm
- Cytosol
- Nucleus
Alternative names
C11orf73, HSPC138, HSPC179, HSPC248, HIKESHI, Protein Hikeshi