AFG3L2 Chromosome 18
AFG3 like matrix AAA peptidase subunit 2
Upload your DNA to see your personal genotypes for variants in AFG3L2.
What This Gene Does
This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
AAA ATPases
Locus Type
gene with protein product
Location
18p11.21
Ensembl
ENSG00000141385
Associated Conditions (15)
Dystonic disorder
Hyperkinetic movements
Abnormal cerebellum morphology
Optic atrophy
Optic atrophy 12
Spinocerebellar ataxia type 28
Spastic ataxia 5
AFG3L2-related disorder
Spastic ataxia
Inborn genetic diseases
Glycogen storage disease type III
Sensorineural hearing loss disorder
Spastic paraparesis
Intellectual disability
Reduced tendon reflexes
Key Variants
RS1005670966
Conflicting classifications of pathogenicity
Health Risk
RS1057522195
Conflicting classifications of pathogenicity
Dystonic disorder, Hyperkinetic movements, Abnormal cerebellum morphology
Health Risk
RS117182113
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 28, Spastic ataxia 5, AFG3L2-related disorder
Health Risk
RS1282576516
Conflicting classifications of pathogenicity
Health Risk
RS1320367366
Conflicting classifications of pathogenicity
Spastic ataxia, Spastic ataxia
Health Risk
RS139469785
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 28, Spastic ataxia 5, Inborn genetic diseases
Health Risk
RS149605021
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 28, AFG3L2-related disorder, Spinocerebellar ataxia type 28
Health Risk
RS151344512
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 28, AFG3L2-related disorder, Spinocerebellar ataxia type 28
Health Risk
RS151344523
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28
Health Risk
RS1598820805
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28
Health Risk
RS200759046
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201966169
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spinocerebellar ataxia type 28, Inborn genetic diseases
Health Risk
All Variants (83)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS764254189 | Health Risk | Likely pathogenic | Spastic ataxia 5, Spastic ataxia 5 |
| RS797045221 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28 |
| RS1020764190 | Health Risk | Pathogenic | Optic atrophy, Optic atrophy 12, Optic atrophy |
| RS1245586204 | Health Risk | Pathogenic | — |
| RS1324490374 | Health Risk | Pathogenic | — |
| RS149121681 | Health Risk | Pathogenic | Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28 |
| RS151344515 | Health Risk | Pathogenic | Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28 |
| RS151344519 | Health Risk | Pathogenic | Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28 |
| RS151344520 | Health Risk | Pathogenic | Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28 |
| RS151344521 | Health Risk | Pathogenic | Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28 |
| RS151344522 | Health Risk | Pathogenic | Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28 |
| RS1598825313 | Health Risk | Pathogenic | — |
| RS1598832526 | Health Risk | Pathogenic | Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28 |
| RS1907906060 | Health Risk | Pathogenic | Spastic ataxia 5, Spastic ataxia 5 |
| RS1907907851 | Health Risk | Pathogenic | Spastic ataxia 5, Spastic ataxia 5 |
| RS1908300748 | Health Risk | Pathogenic | Optic atrophy 12, Spastic paraparesis, Optic atrophy |
| RS1908309088 | Health Risk | Pathogenic | Intellectual disability, Optic atrophy, Intellectual disability |
| RS1908369114 | Health Risk | Pathogenic | Optic atrophy, Reduced tendon reflexes, Optic atrophy |
| RS1908507433 | Health Risk | Pathogenic | Optic atrophy, Optic atrophy |
| RS2143165387 | Health Risk | Pathogenic | Spinocerebellar ataxia type 28, Optic atrophy 12, Spastic ataxia 5 |
| RS2143196334 | Health Risk | Pathogenic | Spastic ataxia 5, Spastic ataxia 5 |
| RS2510220593 | Health Risk | Pathogenic | — |
| RS2510230443 | Health Risk | Pathogenic | — |
| RS2510233343 | Health Risk | Pathogenic | — |
| RS377249792 | Health Risk | Pathogenic | — |
| RS387906889 | Health Risk | Pathogenic | Spastic ataxia 5, Spastic ataxia 5 |
| RS543422544 | Health Risk | Pathogenic | Spastic ataxia 5, Spastic ataxia 5 |
| RS754307169 | Health Risk | Pathogenic | — |
| RS755893615 | Health Risk | Pathogenic | Optic atrophy, Optic atrophy |
| RS765987297 | Health Risk | Pathogenic | Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28 |
| RS775255820 | Health Risk | Pathogenic | Spastic ataxia 5, Spastic ataxia 5 |
| RS151344514 | Health Risk | Pathogenic/Likely pathogenic | Spinocerebellar ataxia type 28, Optic atrophy 12, Spastic ataxia 5 |
| RS1598820860 | Health Risk | Pathogenic/Likely pathogenic | Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28 |