Full name: huntingtin associated protein 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: HAP2; HIP5; HLP; hHLP1

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 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]

Expression: Biased expression in stomach (RPKM 6.7), brain (RPKM 3.4) and 9 other tissues

Gene size: 16908bp

Exon count: 13