Gene:
huntingtin-associated protein 1 (neuroan 1)
Gene ID:
207580
Symbol:
HAP1
Species:
1000
Description:
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. Two transcripts encoding different isoforms have been completely described. Although additional isoforms have been reported, the full-length nature of the transcripts encoding them has not been defined.