Huntingtin

Common card · No. 435791

Huntingtin (Htt) is a human protein encoded by the HTT gene, also known as IT15 ("interesting transcript 15"). Pathogenic expansions in HTT (disease-causing repeat length increases) cause Huntington's disease (HD), and the protein has also been implicated in mechanisms of long-term memory storage. HTT is expressed in many tissues, with the highest levels in the brain. Expression is developmentally regulated and required for embryogenesis. Huntingtin normally consists of 3,144 amino acids and has a predicted mass of ~350 kDa, depending on the length of its polyglutamine tract. Polymorphisms in HTT alter the number of glutamine residues: the wild-type allele encodes 6–35 repeats, whereas pathogenic expansions in HD exceed 36, with severe juvenile cases reaching ~250 repeats. The name huntingtin reflects this association with disease; IT15 was its earlier designation. The molecular functions of huntingtin are not fully defined, but the protein is essential for neuronal survival and development...

Read on Wikipedia · Image Jawahar Swaminathan and MSD staff at the European Bioinformatics Institute, Public domain