SPG7
Chr 16ARSPG7 matrix AAA peptidase subunit, paraplegin
Also known as: CAR, CMAR, PGN, SPG5C
The protein is a mitochondrial metalloprotease that functions in the inner mitochondrial membrane and belongs to the AAA family involved in proteolysis, protein folding, and organelle biogenesis. Mutations cause autosomal recessive spastic paraplegia 7, characterized by progressive spasticity and weakness of the lower limbs. The pathogenic mechanism involves dominant negative effects disrupting normal mitochondrial protease function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SPG7 · 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