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FLASH GENE
Symbol HTT contributors: mct/pgu/shn - updated : 03-06-2015
HGNC name huntingtin
HGNC id 4851
ASSOCIATED DISORDERS
corresponding disease(s) HD
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       gain of function
a toxic gain of function of the mutant huntingtin
Susceptibility
Variant & Polymorphism
Candidate gene calcium and mitochondrial permeability transition pore blockers may have a therapeutic potential for treatment of HD
Marker
Therapy target
ANIMAL & CELL MODELS
  • Homozygotes mice for disruption of exon 5 of the Htt gene (Hdhex5) die before embryonic day 8.5, initiate gastrulation, but do not proceed to the formation of somites or to organogenesis. Mice heterozygous for the Hdhex5 mutation display increased motor activity and cognitive deficits with significant neuronal loss in the subthalamic nucleus
  • adult mice with a precise deletion of the short CAG triplet repeat encoding 7Q in the mouse HD gene commit more errors initially in the Barnes circular maze learning and memory test (
  • conditional inactivation of the Hdh mouse gene in Wnt1 cell lineages results in congenital hydrocephalus (
  • huntingtin loss-of-function on the developing nervous system of zebrafish causes distinct defects in morphology of neuromasts, olfactory placode and branchial arches (
  • mice expressing mutant htt, resistant to cleavage by caspase-6 but not caspase-3, maintain normal neuronal function and do not develop striatal neurodegeneration
  • Meclizine is neuroprotective in models of Huntington's disease