A brief introduction to HD
(2):
• The HD gene, IT15 (HDCRG, 1993)
• Promoter: house keeping gene?
• Conserved to Fugu puffer fish
• Gene KO studies
– Nasir et al., Zeitlin et al., Duyao et al.
• Gene product, huntingtin (htt)
• Large protein in complex
• Function: unknown
• Ubiqutious expression
• Cleavage by calpain and caspase-3