midline 1 (Opitz/BBB syndrome), ELISA Kit

Human Midline-1 (MID1) ELISA kit; BBBG1; FXY; GBBB1; MIDIN; OGS1; OS; OSX; RNF59; TRIM18; XPRF; ZNFXY; OTTHUMP00000022896; OTTHUMP00000022898; OTTHUMP00000022900; OTTHUMP00000022901; midline 1; midline 1 ring finger; putative transcriptio; midline 1 (Opitz/BBB syndrome)

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

This assay has high sensitivity and excellent specificity for detection of human MID1. No significant cross-reactivity or interference between human MID1 and analogues was observed.

Unopened test kits should be stored at 2 to 8 degree C upon receipt. Please refer to pdf manual for further storage instructions.

Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.

Select online data sheet information is drawn from bioinformatics databases, occasionally resulting in ambiguous or non-relevant product information. It is the responsibility of the customer to review, verify, and evaluate the information to make sure it matches their requirements before purchasing the kit. Our ELISA Kit assays are dynamic research tools and sometimes they may be updated and improved. If the format of this assay is important to you then please request the current manual or contact our technical support team with a presales inquiry before placing an order. We will confirm the current details of the assay. We cannot guarantee the sample manual posted online is the most current manual.

Small volumes of MID1 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.

MBS941500 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the midline 1 (Opitz/BBB syndrome) (MID1) 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 MID1. The ELISA analytical biochemical technique of the MBS941500 kit is based on MID1 antibody-MID1 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect MID1 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, MID1. 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 the quantitative sandwich enzyme immunoassay technique. Antibody specific for MID1 has been pre-coated onto a microplate. Standards and samples are pipetted into the wells and any MID1 present is bound by the immobilized antibody. After removing any unbound substances, a biotin-conjugated antibody specific for MID1 is added to the wells. After washing, avidin 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 MID1 bound in the initial step. The color development is stopped and the intensity of the color is measured.

75,251 Da

midline 1

E3 ubiquitin-protein ligase Midline-1; Opitz/BBB syndrome; RING finger protein 59; RING finger protein Midline-1; midline 1 RING finger protein; tripartite motif protein TRIM18; putative transcription factor XPRF; tripartite motif-containing protein 18; zinc finger on X and Y, mouse, homolog of

E3 ubiquitin-protein ligase Midline-1

FXY; RNF59; TRIM18; XPRF  [Similar Products]

TRI18_HUMAN

The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Multiple different transcript variants are generated by alternate splicing; however, the full-length nature of some of the variants has not been determined. [provided by RefSeq, Jul 2010]

MID1: Has E3 ubiquitin ligase activity towards IGBP1, promoting its monoubiquitination, which results in deprotection of the catalytic subunit of protein phosphatase PP2A, and its subsequent degradation by polyubiquitination. Defects in MID1 are the cause of Opitz GBBB syndrome 1 (OGS1). A congenital midline malformation syndrome characterized by hypertelorism, genital-urinary defects such as hypospadias in males and splayed labia in females, lip-palate- laryngotracheal clefts, imperforate anus, developmental delay and congenital heart defects. MID1 mutations produce proteins with a decreased affinity for microtubules. Belongs to the TRIM/RBCC family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 6.3.2.19; Ubiquitin conjugating system; EC 6.3.2.-; Ligase; Ubiquitin ligase; Cytoskeletal

Chromosomal Location of Human Ortholog: Xp22

Cellular Component: microtubule; microtubule associated complex; cytoplasmic microtubule; spindle; cytosol

Molecular Function: protein homodimerization activity; zinc ion binding; protein heterodimerization activity; microtubule binding; ubiquitin protein ligase binding; phosphoprotein binding; ligase activity

Biological Process: metabolic process; negative regulation of microtubule depolymerization; cytokine and chemokine mediated signaling pathway; microtubule cytoskeleton organization and biogenesis; pattern specification process; positive regulation of stress-activated MAPK cascade

Disease: Tracheoesophageal Fistula With Or Without Esophageal Atresia; Opitz Gbbb Syndrome, X-linked

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