SPAST
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | spastin |
| EntrezGene | 6683 |
| PheGenI | 6683 |
| VariationViewer | 6683 |
| ClinVar | SPAST |
| GeneCards | SPAST |
| dbSNP | 6683 |
| Diseases | SPAST |
| SADR | 6683 |
| HugeNav | 6683 |
| wikipedia | SPAST |
| SPAST | |
| gopubmed | SPAST |
| EVS | SPAST |
| HEFalMp | SPAST |
| MyGene2 | SPAST |
| 23andMe | SPAST |
| UniProt | Q9UBP0 |
| Ensembl | ENSG00000021574 |
| OMIM | 604277 |
| # SNPs | 56 |
[Cell Reports November 1, 2012] "Normal Spastin Gene Dosage Is Specifically Required for Axon Regeneration" - Animals with one copy of the spastin gene have major deficits in axon regeneration. The three other severing proteins are not haploinsufficient for regeneration. Developmental axon and dendrite outgrowth is normal in spastin mutants. The sensitivity of axon regeneration to spastin levels suggests a new idea for hereditary spastic paraplegia. We conclude that regenerative axon growth is uniquely sensitive to spastin gene dosage.
