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FLASH GENE
Symbol DCTN1 contributors: mct - updated : 03-06-2013
HGNC name dynactin 1 (p150, glued homolog, Drosophila)
HGNC id 2711
ASSOCIATED DISORDERS
corresponding disease(s) LMND , PERS
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
linked to a slowly progressive form of lower motor neuron disease that resembles ALS (Moore 2009)
constitutional     --over  
with microtubule stabilization, functions cooperatively to protect axons from excitotoxicity-induced degeneration (pMID: 22728878)
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
Heterozygous G59S-mutant mice are viable, and adults exhibit cellular abnormalities in lower motor neurons that are reminiscent of changes seen with human diseases, including ALS (Moore 2009)