HIKESHI
Chr 11ARheat shock protein nuclear import factor hikeshi
Also known as: C11orf73, HLD13, HSPC138, HSPC179, L7RN6, OPI10
The protein functions as a nuclear transport receptor that specifically imports ATP-bound HSP70 heat shock proteins into the nucleus during cellular stress responses. Mutations cause hypomyelinating leukodystrophy 13, an autosomal recessive disorder affecting white matter development in the brain. This gene shows moderate constraint against loss-of-function variants (LOEUF 0.59), suggesting some tolerance to functional disruption.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
HIKESHI · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools