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Gene Symbol HTT
Synonyms HD | IT15 | LOMARS
Gene Description HTT, huntingtin, is a scaffold protein (PMID: 25686248) that has been shown to play a role in neural development (PMID: 21994396), the trafficking of vesicles and organelles along axons (PMID: 19269181), mediation of endocytosis (PMID: 26938440), transcription (PMID: 18923047), and autophagy (PMID: 25282404), and several cellular processes including cell survival (PMID: 11278258), cell division (PMID: 24749073), and cell polarity (PMID: 25942483). Decreased expression of HTT has been identified in breast cancer (PMID: 26293574), and a fusion with HTT and PKN1 has been identified in vulvar pigmented epithelioid melanocytoma (PMID: 31972666).
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