GPRASP1
Chr XG protein-coupled receptor associated sorting protein 1
Also known as: GASP, GASP-1, GASP1
The GPRASP1 protein modulates lysosomal sorting and targets G-protein coupled receptors (including dopamine, opioid, adrenergic, and cannabinoid receptors) for degradation in lysosomes. Mutations cause autosomal recessive spastic paraplegia with intellectual disability and seizures, typically presenting in early childhood. This gene is highly constrained against loss-of-function variation (LOEUF 0.416), indicating intolerance to protein-truncating mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
200 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 | 54 | 0 | 54 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 1 | 121 | 4 | 0 | 126 |
Likely Benign | 0 | 13 | 0 | 4 | 17 |
Benign | 0 | 0 | 0 | 1 | 1 |
Conflicting | — | 2 | |||
| Total | 1 | 134 | 58 | 5 | 200 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GPRASP1 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools