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FLASH GENE
Symbol PLS3 contributors: mct/npt - updated : 12-10-2016
HGNC name plastin 3 (T isoform)
HGNC id 9091
ASSOCIATED DISORDERS
corresponding disease(s) MRDO , COPO
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
rescued the axon length and outgrowth defects associated with SMN down-regulation in motor neurons
constitutional     --over  
in actively dividing cells and up-regulated in several carcinomas
constitutional     --over  
hypomethylation is associated with overexpression of PLS3, GATA6, and TWIST1 in the Sezary Syndrome
constitutional     --low  
contributes to SMA motor phenotypes
Susceptibility
Variant & Polymorphism
Candidate gene useful molecular marker for predicting the responsiveness of cancer cells to treatment with chemotherapeutic drugs
Marker
Therapy target
SystemTypeDisorderPubmed
neuromuscularspinal muscular atrophy 
power of PLS3 and CORO1C modidfiers to unravel the cellular pathomechanisms underlying SMA and the power of combinatorial therapy based on splice correction of SMN2 and endocytosis improvement to efficiently treat SMA
ANIMAL & CELL MODELS
  • endocytosis is disturbed in the NMJ of SMA mice and this disturbance is counteracted by Pls3 overexpression