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hap1

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Official Full Name
huntingtin-associated protein 1
Background
Huntingtons disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that is homologous to the human huntingtin-associated protein 1. The human protein interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Two transcripts encoding different isoforms have been identified.
Synonyms
HAP1; huntingtin-associated protein 1; HAP2; hHLP1; HIP5; HLP; neuroan 1; HAP-1; huntingtin-associated protein 2