SPIN1
Chr 9spindlin 1
Also known as: SPIN, TDRD24
The protein mediates lysosomal efflux of lysophospholipids in the phospholipid salvage pathway, which is essential for lysosomal homeostasis and cell survival under nutrient stress. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability, seizures, and progressive neurodegeneration. The gene is highly constrained against loss-of-function variants, indicating that biallelic mutations are likely required for disease.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SPIN1 · 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