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GENATLAS PHENOTYPE |
last update : 08-10-2013 |
Symbol | SPG3A |
Location | 14q21 |
Name | spastic paraplegia 3A |
Other name(s) | Strumpell-Lorrain type |
Corresponding gene | ATL1 |
Other symbol(s) | FSP, FSP1 |
Main clinical features |
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Genetic determination | autosomal dominant |
Related entries | . de novo mutation reported presenting as spastic diplegic cerebral palsy |
Function/system disorder | neurology |
Type | disease |
Gene product |
Name | spastic paraplegia 3A (autosomal dominant) gene |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
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| impairing GTPase activity and thus may acting in a dominant-negative, loss-of-function manner by forming mixed oligomers with wild-type atlastin-1
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Remark(s) |
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