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FLASH GENE
Symbol SPG11 contributors: mct/shn - updated : 14-10-2014
HGNC name spastic paraplegia 11 (autosomal recessive)
HGNC id 11226
ASSOCIATED DISORDERS
corresponding disease(s) SPG11 , CMT2X , ALS5
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • SPG11 knock-down in zebrafish by morpholino antisense oligonucleotides lead to locomotor impairment and abnormal branching of spinal cord motor neurons at the neuromuscular junction
  • SPG11 knockdown causeS the cation-independent mannose 6-phosphate receptor to become trapped in clusters of early endosomes of HeLa cells