oligophrenin 1, ELISA Kit

Human Oligophrenin-1 (OPHN1) ELISA kit; RP6-201G10.1; MRX60; OPN1; mental retardation; X-linked 60; oligophrenin-1; Rho-GTPase activating protein; oligophrenin 1

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

Store all reagents at 2-8 degree C

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 OPHN1 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.

MBS9331966 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the oligophrenin 1 (OPHN1) 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 OPHN1. The ELISA analytical biochemical technique of the MBS9331966 kit is based on OPHN1 antibody-OPHN1 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect OPHN1 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, OPHN1. 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(%).

91,641 Da

oligophrenin 1

oligophrenin-1; mental retardation, X-linked 60; oligophrenin-1, Rho-GTPase activating protein

Oligophrenin-1

OPHN1_HUMAN

This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked mental retardation with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008]

OPHN1: Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the stabilization of AMPA receptors at postsynaptic sites. Critical for the regulation of synaptic vesicle endocytosis at presynaptic terminals. Defects in OPHN1 are the cause of mental retardation X- linked OPHN1-related (MRXSO); formerly designated MRX60. MRXSO is a syndromic mental retardation. Patients present mental retardation associated with cerebellar hypoplasia and distinctive facial dysmorphism.

Protein type: Motility/polarity/chemotaxis; GAPs; GAPs, Rac/Rho

Chromosomal Location of Human Ortholog: Xq12

Cellular Component: dendritic spine; terminal button; cytosol; cell junction; actin cytoskeleton

Molecular Function: ionotropic glutamate receptor binding; phospholipid binding; actin binding

Biological Process: nervous system development; axon guidance; regulation of small GTPase mediated signal transduction; regulation of synaptic transmission, glutamatergic; small GTPase mediated signal transduction; synaptic vesicle endocytosis; regulation of endocytosis; actin cytoskeleton organization and biogenesis; signal transduction; substrate-bound cell migration, cell extension

Disease: Mental Retardation, X-linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance

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