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FLASH GENE

Symbol

DYNC1H1

contributors: mct - updated : 15-06-2013

HGNC name	dynein, cytoplasmic, heavy polypeptide 1
HGNC id	2961

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

MRD13 , CMT2O

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects .

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	missense point mutation in murine Dync1h1 that results in late-onset motor neuron loss, also present with a severe, early-onset proprioceptive sensory neuropathy (