HABP4
Chr 9hyaluronan binding protein 4
Also known as: IHABP-4, IHABP4, Ki-1/57, SERBP1L
The protein encoded by this gene is a ribosome-binding protein that promotes ribosome hibernation and stabilization, and also regulates RNA splicing and transcriptional processes. Mutations cause autosomal recessive spastic paraplegia with intellectual disability, typically presenting in early childhood with progressive spasticity primarily affecting the lower extremities and developmental delays. The gene shows moderate constraint against loss-of-function variants, suggesting some intolerance to complete protein loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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
HABP4 · 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