The transcript was present at highest levels in skeletal and cardiac muscle, with lower expression in other tissues. Mutation analysis was performed using DNA samples from 2 unrelated patients with Barth syndrome and from 11 unrelated patients with Emery-Dreifuss muscular dystrophy. No disease-associated mutations were detected in the coding region of the gene; however, Parrish et al. found a novel 190-bp insertion/deletion polymorphism in the 3-prime untranslated region. Translation of the long open reading frame found in the cDNA yielded a putative 302-amino acid protein with 37.6% identity to human DNase I.DNASE1L1 was predicted to contain a signal sequence at the amino terminus, a transmembrane domain near the carboxyl terminus, and a helix-loop-helix domain.
Human Deoxyribonuclease-1-like 1 (DNASE1L1) ELISA Kit employs a two-site sandwich ELISA to quantitate DNASE1L1 in samples. An antibody specific for DNASE1L1 has been pre-coated onto a microplate. Standards and samples are pipetted into the wells and anyDNASE1L1 present is bound by the immobilized antibody. After removing any unbound substances, a biotin-conjugated antibody specific for DNASE1L1 is added to the wells. After washing, Streptavidin conjugated Horseradish Peroxidase (HRP) is added to the wells. Following a wash to remove any unbound avidin-enzyme reagent, a substrate solution is added to the wells and color develops in proportion to the amount of DNASE1L1 bound in the initial step. The color development is stopped and the intensity of the color is measured.
Human Deoxyribonuclease-1-like 1 (DNASE1L1) ELISA Kit listed herein is for research use only and is not intended for use in human or clinical diagnosis. Suggested applications of our products are not recommendations to use our products in violation of any patent or as a license. We cannot be responsible for patent infringements or other violations that may occur with the use of this product.
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