基因名：
HAP1
产品别名：
HAP2； HIP5； HLP； hHLP1； HAP1； huntingtin associated protein 1； huntingtin associated protein 1； huntingtin-associated protein 1； HAP-1； epididymis secretory sperm binding protein； huntingtin-associated protein 2； neuroan 1； 亨廷顿关联蛋白1(HAP1)； 舞蹈症相关蛋白1；
背景信息：
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 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]
