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Product Name HAP40 Chinese Name 舞蹈症相关蛋白40/凝血因子8相关蛋白/第八因子相关蛋白抗体 Alias F8a; 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. Research Area Cell biology Neurobiology Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Cow, ) Applications WB=1:500-2000 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 39kDa Cellular localization The nucleus Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human HAP40: 2-80/371 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the middle copy. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types. [provided by RefSeq, Jul 2008]
Function:
Huntington’s disease is caused by an expanded CAG trinucleotide repeat coding for a polyglutamine stretch within the huntingtin protein. Huntingtin co-purifies with a single novel 40 kDa protein designated HAP40. Recombinant HAP40 is cytoplasmic in the presence of huntingtin but is actively targeted to the nucleus in the absence of huntingtin. These observations suggest that HAP40 contributes to the function of normal huntingtin and is a candidate for involvement in the aberrant nuclear localization of mutant huntingtin found in degenerating neurons in Huntington’s disease.
Subcellular Location:
Nuclear.
SWISS:
P23610
Gene ID:
474383
Database links:Entrez Gene: 474383 Human
Entrez Gene: 474384 Human
Entrez Gene: 8263 Human
Omim: 305423 Human
SwissProt: P23610 Human
Unigene: 533543 Human
Unigene: 731793 Human
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