Gene Symbol | Hap1 |
Entrez Gene ID | 29430 |
Full Name | huntingtin-associated protein 1 |
Synonyms | HAP1-A,HAP1-B |
General protein information |
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Gene Type | protein-coding |
Organism | Rattus norvegicus(Norway rat) |
Genome | |
Summary | Huntington's 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. [provided by RefSeq, Jul 2008]. |