Search Thermo Fisher Scientific
Immunogen sequence: LLQPPPAKLL PEHAQTLEKY SWEAFDSHGQ ESSGQLPEEL FLLLQSLVMA THEKDTEAIK SLQVEMWPLL TAEQNHLLHL VLQETISPSG QGV
Highest antigen sequence identity to the following orthologs: Mouse - 92%, Rat - 95%.
Huntington's disease is caused by an expanded CAG trinucleotide repeat coding for a polyglutamine stretch within the Huntington protein. Huntington co-purifies with a single novel 40 kDa protein designated HAP40. Recombinant HAP40 is cytoplasmic in the presence of Huntington but is actively targeted to the nucleus in the absence of Huntington. These observations suggest that HAP40 °Contributes to the function of normal Huntington and is a candidate for involvement in the aberrant nuclear localization of mutant Huntington found in degenerating neurons in Huntington's disease.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 40-kDa huntingtin-associated protein; coagulation factor VIII-associated (intronic transcript) 1; coagulation factor VIII-associated (intronic transcript) 2; coagulation factor VIII-associated (intronic transcript) 3; CpG island protein; factor VIII associated protein; Factor VIII intron 22 protein; HAP40; huntingtin-associated protein 40; RP23-114O19.4
基因别名: DXS522E; F8A; F8A1; F8A2; F8A3; HAP40
UniProt ID: (Human) P23610
Entrez Gene ID: (Human) 8263, (Human) 474383, (Human) 474384