HEBP1
Chr 12heme binding protein 1
Also known as: HBP, HEBP
The protein binds heme and porphyrins with high affinity and may facilitate removal of potentially toxic free porphyrinogens from cells. Mutations cause autosomal recessive intellectual disability with seizures and spasticity, typically presenting in early childhood. This gene is highly constrained against loss-of-function mutations, indicating that complete loss of protein function is likely not tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
80 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 43 | 0 | 43 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 22 | 5 | 0 | 27 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 22 | 50 | 0 | 72 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
HEBP1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Motor Function Efficacy of Pharmacological Treatments Targeting Energy Metabolism, in Parkinson's Patients
NOT YET RECRUITINGInflammation and Oxidative Stress in COPD
ENROLLING BY INVITATIONExternal Resources
Links to major genomics databases and tools