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FLASH GENE

Symbol

DCTN1

contributors: mct - updated : 03-06-2015

HGNC name	dynactin 1 (p150, glued homolog, Drosophila)
HGNC id	2711

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

LMND , PERS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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) constitutional     --over   in sporadic amyotrophic lateral sclerosis (SALS) and dependent of age

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)