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SPAST

From SNPedia

is agene
is mentioned by
Full namespastin
EntrezGene6683
PheGenI6683
VariationViewer6683
ClinVarSPAST
GeneCardsSPAST
dbSNP6683
SADR6683
HugeNav6683
wikipediaSPAST
googleSPAST
gopubmedSPAST
EVSSPAST
HEFalMpSPAST
MyGene2SPAST
23andMeSPAST
UniProtQ9UBP0
EnsemblENSG00000021574
OMIM604277
# SNPs38
 Max MagnitudeChromosome positionSummary
rs121908509032,116,199
rs121908510032,136,898
rs121908511032,141,905
rs121908512032,136,877
rs121908513032,116,145
rs121908514032,127,006
rs121908515032,063,962
rs121908516032,136,964
rs121908517032,063,965
rs121908518032,145,004
rs121908519032,136,890
rs142053576032,144,945
rs28939368032,136,964
rs587777751032,136,950
rs587777752032,147,216
rs587777753032,087,529
rs587777754032,147,259
rs587777755032,128,483
rs587777756032,136,970
rs587777757032,128,450
rs757130394032,137,112
rs786204126032,136,608
rs786204132032,127,014
rs786204163032,137,108
rs797044850032,127,017
rs86322451332,128,479
rs86322451432,087,540
rs86322451532,115,756
rs863224923032,145,005
rs864622162032,141,917
rs864622179032,144,996
rs86462226832,137,132
rs869312949032,144,954
rs875989878032,128,480
rs878854990032,136,933
rs878854991032,141,906
rs878854992032,144,995

[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.