For Research Use Only. Not for use in diagnostic procedures.

This assay has high sensitivity and excellent specificity for detection of Human PLEKHM1. No significant cross-reactivity or interference between Human PLEKHM1 and analogues was observed.

Store at 2-8 degree C.

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Small volumes of PLEKHM1 elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS280168 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the Pleckstrin homology domain-containing family M member 1 (PLEKHM1) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing PLEKHM1. The ELISA analytical biochemical technique of the MBS280168 kit is based on PLEKHM1 antibody-PLEKHM1 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect PLEKHM1 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, PLEKHM1. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

Principle of the Assay: This assay employs a two-site sandwich ELISA to quantitate PLEKHM1 in samples. An antibody specific for PLEKHM1 has been pre-coated onto a microplate. Standards and samples are pipetted into the wells and anyPLEKHM1 present is bound by the immobilized antibody. After removing any unbound substances, a biotin-conjugated antibody specific for PLEKHM1 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 PLEKHM1 bound in the initial step. The color development is stopped and the intensity of the color is measured.

117,443 Da

pleckstrin homology and RUN domain containing M1

pleckstrin homology domain-containing family M member 1

Pleckstrin homology domain-containing family M member 1

KIAA0356; PH domain-containing family M member 1; AP162??[Similar Products]

The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]

PLEKHM1: Involved in vesicular transport in the osteoclast. May have a role in sialyl-lex-mediated transduction of apoptotic signals. Defects in PLEKHM1 are the cause of osteopetrosis autosomal recessive type 6 (OPTB6); also known as autosomal recessive osteopetrosis intermediate form. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or *****hood. Autosomal recessive osteopetrosis is usually associated with normal or elevated amount of non-functional osteoclasts.

Protein type: Unknown function

Chromosomal Location of Human Ortholog: 17q21.31

Cellular Component: endosome membrane; intracellular membrane-bound organelle; lysosomal membrane; nucleolus

Molecular Function: metal ion binding

Biological Process: autophagy; lysosome localization; positive regulation of bone resorption; positive regulation of ruffle assembly; protein transport

Disease: Osteopetrosis, Autosomal Recessive 6

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