{"symbol":"HAP1","synonyms":["HHLP1","HIP5"],"name":"huntingtin-associated protein 1","description":"Huntington\u0027s 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 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. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":9001,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/9001","proteins":[{"symbol":"HAP1_HUMAN","href":"/api/1.0/protein/HAP1_HUMAN"}],"hgncRootFamilies":[]}