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.
Immunogeno
peptide corresponding to the mouse HAP40 protein (amino acids 314-325).
Applicazioni
Co-immunoprecipitates Huntingtin protein.
Azioni biochim/fisiol
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.
Descrizione del bersaglio
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
Stato fisico
Solution of 1 mg/mL in phosphate buffered saline containing 0.02% sodium azide.
Esclusione di responsabilità
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
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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