Huntingtin associated protein 1 and its functions.
Huntington disease (HD) is caused by a polyglutamine expansion in the protein huntingtin (Htt). Several studies suggest that Htt and huntingtin associated protein 1 (HAP1) participate in intracellular trafficking and that polyglutamine expansion affects vesicular transport. Understanding the function of HAP1 and its related proteins could help elucidate the pathogenesis of HD. The present review focuses on HAP1, which has proved to be involved in intracellular trafficking. Unlike huntingtin, which is expressed ubiquitously throughout the brain and body, HAP1 is enriched in neurons, suggesting that its dysfunction could contribute to the selective neuropathology in HD. We discuss recent evidence for the involvement of HAP1 and its binding proteins in potential functions.
Wu
Linda Lin-yan
LL
Department of Human Physiology, Flinders University, Adelaide, South Australia, Australia.
Zhou
Xin-Fu
XF
D000818:Animals; D001692:Biological Transport; D004705:Endocytosis; D006801:Humans; D002479:Inclusion Bodies / Q000378:metabolism; D020409:Molecular Motor Proteins / Q000378:metabolism; D009419:Nerve Tissue Proteins / Q000378:metabolism*; D015398:Signal Transduction; D014158:Transcription, Genetic
C096896:HAP1 protein, human; D020409:Molecular Motor Proteins; D009419:Nerve Tissue Proteins