HAP40 Polyclonal Antibody, AbBy Fluor™ 350 Conjugated

The Huntingtin protein contains a polyglutamine region, which leads to Huntingtin?s disease (HD) when the number of glutamine repeats exceeds thirty-five. The mutated Huntingtin protein acts within the nucleus to induce neurodegeneration by a cell-specific apoptotic mechanism. The loss of activity of the Huntingtin protein may be contributed to abnormal interactions between the mutant protein and other associated cellular proteins. Huntingtin interacts with a variety of proteins including HAP1, glyceraldehyde phosphate dehydrogenase (GAPDH), HAP40, Rab5 and HIP1. HAP40 mediates the recruitment of Huntingtin by Rab5 onto early endosomes. Specifically, this complex regulates endosome motility, which may be a key event of the pathogenetic process leading to neurodegeneration in HD.

Coagulation factor 8 associated intronic transcript 1; Coagulation factor VIII associated intronic transcript 1; CpG island protein; DXS522E; F8a; F8A1; F8A2; F8A3; Factor 8 associated protein; Factor 8 intron 22 protein; Factor VIII associated protein; Factor VIII intron 22 protein; huntingtin associated protein 40; F8I2_HUMAN.