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SPAST

From SNPedia

is agene
is mentioned by
Full namespastin
EntrezGene6683
PheGenI6683
VariationViewer6683
ClinVarSPAST
GeneCardsSPAST
dbSNP6683
DiseasesSPAST
SADR6683
HugeNav6683
wikipediaSPAST
googleSPAST
gopubmedSPAST
EVSSPAST
HEFalMpSPAST
MyGene2SPAST
23andMeSPAST
UniProtQ9UBP0
EnsemblENSG00000021574
OMIM604277
# SNPs57
 Max MagnitudeChromosome positionSummary
rs1057517974032,089,590
rs1057518873032,144,990
rs1057518880032,126,966
rs1057519181032,116,180
rs1057520127032,128,443
rs1057521135032,064,247
rs1057524526032,115,701
rs1060499670032,126,960
rs1060499939032,137,172
rs1060502226032,127,023
rs1060502227032,136,593
rs1060502229032,064,241
rs1060502230032,064,221
rs1064793273032,128,459
rs1064793976032,154,373
rs1064796279032,136,620
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
rs573642949032,063,958
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
rs863224513032,128,479
rs863224514032,087,540
rs863224515032,115,756
rs863224923032,145,005
rs864622162032,141,917
rs864622179032,144,996
rs864622268032,137,132
rs869312949032,144,954
... further results

[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.