SPG7 Chromosome 16
SPG7 matrix AAA peptidase subunit, paraplegin
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What This Gene Does
This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014]
Gene Info
Gene Group
AAA ATPases
Locus Type
gene with protein product
Location
16q24.3
Ensembl
ENSG00000197912
Associated Conditions (46)
Hereditary spastic paraplegia 7
Hereditary spastic paraplegia
SPG7-related disorder
Inborn genetic diseases
Retinal dystrophy
Spastic Paraplegia
Recessive
Spastic paraparesis
Dysarthria
Gait ataxia
Cerebral cortical atrophy
Optic nerve hypoplasia
Intellectual disability
Spastic ataxia
Sensorimotor neuropathy
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Ovarian serous cystadenocarcinoma
Thymoma
Thyroid cancer
nonmedullary
+26 more conditions
Key Variants
RS111475461
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 7, Hereditary spastic paraplegia, Hereditary spastic paraplegia 7
Health Risk
RS114135540
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 7, Hereditary spastic paraplegia, SPG7-related disorder
Health Risk
RS114255772
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
Health Risk
RS114854791
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 7, Hereditary spastic paraplegia, Hereditary spastic paraplegia 7
Health Risk
RS115448299
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
Health Risk
RS116319889
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 7, Hereditary spastic paraplegia, Hereditary spastic paraplegia 7
Health Risk
RS1249957920
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 7, Inborn genetic diseases, Hereditary spastic paraplegia 7
Health Risk
RS1319347094
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
Health Risk
RS1329063851
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 7, Hereditary spastic paraplegia, Hereditary spastic paraplegia 7
Health Risk
RS138965309
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 7, Hereditary spastic paraplegia, SPG7-related disorder
Health Risk
RS139952725
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
Health Risk
RS140356355
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
Health Risk
All Variants (207)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS772828460 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7 |
| RS794726906 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 7, SPG7-related disorder, Hereditary spastic paraplegia 7 |
| RS864622094 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7 |
| RS878854606 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7 |
| RS879253797 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 7, Hereditary spastic paraplegia, Hereditary spastic paraplegia 7 |
| RS912983346 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia, Hereditary spastic paraplegia 7, Hereditary spastic paraplegia |
| RS946925151 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7 |