RELCH
Chr 18RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing
Also known as: HsT3308, HsT885, KIAA1468
The RELCH protein regulates intracellular cholesterol distribution by facilitating cholesterol transfer from recycling endosomes to the trans-Golgi network through interactions with RAB11 and OSBP. Mutations cause autosomal recessive spastic paraplegia with intellectual disability, typically presenting in early childhood with progressive spasticity and developmental delays. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
ClinVar Variant Classifications
248 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 | 82 | 0 | 82 |
Likely Pathogenic | 0 | 0 | 6 | 0 | 6 |
VUS | 0 | 118 | 4 | 0 | 122 |
Likely Benign | 0 | 1 | 0 | 2 | 3 |
Benign | 0 | 1 | 0 | 1 | 2 |
| Total | 0 | 120 | 92 | 3 | 215 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RELCH · 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