GAS7
Chr 17growth arrest specific 7
Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells, particularly mature cerebellar Purkinje neurons, and promotes maturation and morphological differentiation of cerebellar neurons. Mutations cause autosomal recessive spastic paraplegia with cerebellar ataxia and intellectual disability. This gene is highly constrained against loss-of-function variants, suggesting that complete loss of function has severe consequences for neurodevelopment.
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GAS7 · 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