HAP1 and intracellular trafficking.
Huntington's disease is caused by a polyglutamine expansion in the protein huntingtin. Several studies suggest that huntingtin and its associated protein HAP1 participate in intracellular trafficking and that polyglutamine expansion affects vesicular transport. A study now provides new evidence that HAP1 is also involved in the endocytosis of membrane receptors. These studies offer insight into the normal function of HAP1 and its involvement in Huntington's disease.
Li
Xiao-Jiang
XJ
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA. xiaoli@genetics.emory.edu
Li
Shi-Hua
SH
D000818:Animals; D006801:Humans; D006816:Huntington Disease / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D047908:Intracellular Signaling Peptides and Proteins / Q000737:chemistry / Q000378:metabolism*; D009419:Nerve Tissue Proteins / Q000737:chemistry / Q000378:metabolism*; D010455:Peptides / Q000378:metabolism; D021381:Protein Transport / Q000502:physiology
C096896:HAP1 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D009419:Nerve Tissue Proteins; D010455:Peptides; C097188:polyglutamine