Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol DYNC1H1 contributors: mct - updated : 15-06-2013
HGNC name dynein, cytoplasmic, heavy polypeptide 1
HGNC id 2961
ASSOCIATED DISORDERS
corresponding disease(s) MRD13 , CMT2O
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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 (