Three sequence-identical paralogs of the factor VIII intronic transcript A (F8A) gene codes for huntingtin-associated protein 40 (HAP40) in humans. In amniotes, HAP40 is coded by a single-exon gene (SEG). The F8A or coagulation factor VIII-associated 1 (F8A1) gene is located on human chromosome Xq28.
Immunogen
peptide corresponding to the mouse HAP40 protein (amino acids 314-325).
Application
Co-immunoprecipitates Huntingtin protein.
Biochem/physiol Actions
Huntingtin-associated protein 40 (HAP40) acts as an effector of Ras-related protein 5 (Rab5) It interacts with huntingtin (HTT). HAP40 may participate in the abnormal nuclear localization of mutant huntingtin identified in Huntington′s disease degenerating neurons.
Target description
HAP40 is a 40 kDa Huntingtin-associated protein. It islikely to contribute to the function of normal huntintinand is a candidate for involvement in the aberrantnuclear localization of mutant huntingtin found indegenerating neurons in Huntington′s
Physical form
Solution of 1 mg/mL in phosphate buffered saline containing 0.02% sodium azide.
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The Journal of biological chemistry, 276(5), 3188-3194 (2000-10-18)
Huntington's disease is caused by an expanded CAG trinucleotide repeat coding for a polyglutamine stretch within the huntingtin protein. Currently, the function of normal huntingtin and the mechanism by which expanded huntingtin causes selective neurotoxicity remain unknown. Clues may come
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