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Mouse Anti-MFRP (AA 480-580) Recombinant Antibody (CBFYM-2159) (CBMAB-M2341-FY)

This product is mouse antibody that recognizes MFRP. The antibody CBFYM-2159 can be used for immunoassay techniques such as: ELISA, IF, WB.
See all MFRP antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBFYM-2159
Antibody Isotype
IgG2b, λ
Application
ELISA, IF, WB

Basic Information

Immunogen
Recombinant protein
Specificity
Human
Antibody Isotype
IgG2b, λ
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.
Epitope
AA 480-580

Target

Full Name
membrane frizzled-related protein
Introduction
This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic transcript which also encodes C1q and tumor necrosis factor related protein 5.
Entrez Gene ID
83552
UniProt ID
Q9BY79
Alternative Names
Membrane Frizzled-Related Protein; Membrane-Type Frizzled-Related Protein; C1q And TNF Related 5; MCOP5; NNO2; RD6
Function
May play a role in eye development.
Biological Process
Embryo development ending in birth or egg hatching Source: UniProtKB
Eye photoreceptor cell development Source: Ensembl
Retina development in camera-type eye Source: Ensembl
Visual perception Source: Ensembl
Cellular Location
Apical cell membrane
Involvement in disease
Nanophthalmos 2 (NNO2):
Rare autosomal recessive disorder of eye development characterized by extreme hyperopia and small functional eyes.
Microphthalmia, isolated, 5 (MCOP5):
A disorder characterized by posterior microphthalmia, retinitis pigmentosa, foveoschisis and optic disk drusen. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present.
Topology
Cytoplasmic: 1-69
Helical: 70-90
Extracellular: 91-579

Mora-Roldan, G. A., Nava, J., Gazarian, K., & Zenteno, J. C. (2024). Generation of the induced pluripotent stem cell line IOCVi001-A from a patient with the MFRP-related retinitis pigmentosa-nanophthalmos syndrome. Stem Cell Research, 103309.

Aucoin, A., Guerin, M. A. K., Gordon, W. C., Ji, J., Perera, R., Elison, J., ... & Bazan, N. G. (2023). Deletion of membrane-type frizzled-related protein (MFRP) or adiponectin receptor 1 (AdipoR1) results in selective fatty acid synthesis impairments and photoreceptor cell degeneration in mice. Investigative Ophthalmology & Visual Science, 64(8), 4866-4866.

Tian, X., Zheng, Q., Xie, J., Zhou, Q., Liang, L., Xu, G., ... & Lu, D. (2023). Improved gene therapy for MFRP deficiency-mediated retinal degeneration by knocking down endogenous bicistronic Mfrp and Ctrp5 transcript. Molecular Therapy-Nucleic Acids, 32, 843-856.

Woodard, D., Dang, K., Lancione, R., Biswas, P., Lazaro, D., Dinov, A., ... & Ayyagari, R. (2023). Single-nucleus multi-modal analysis of photoreceptor alterations during cellular stress in MFRP-associated retinal degeneration. Investigative Ophthalmology & Visual Science, 64(8), 1862-1862.

Ren, X., Gao, Y., Lin, Y., Fu, X., Xiao, L., Wang, X., ... & Tang, L. (2022). A novel mutation in the membrane frizzled-related protein gene for posterior microphthalmia, non-pigmented retinitis pigmentosa, optic nerve drusen, and retinoschisis in a consanguineous family. Frontiers in Medicine, 9, 835621.

Chiou, C. A., Rajabi, F., Fulton, A. B., Acsadi, G., Waitzman, D. M., & Gaier, E. D. (2022). Membrane Frizzled-Related Protein-Related Disease Mimicking Idiopathic Intracranial Hypertension. Journal of Neuro-Ophthalmology, 10-1097.

Pachauri, S., Dang, K., Biswas, P., Chekuri, A. K., Dagar, M., Berry, A. M., ... & Ayyagari, R. (2022). Single-nucleus multi-modal analysis of MFRP associated retinal degeneration. Investigative Ophthalmology & Visual Science, 63(7), 7-7.

Kautzmann, M. A. I., Gordon, W. C., Jun, B., Do, K. V., Matherne, B. J., Fang, Z., & Bazan, N. G. (2020). Membrane‐type frizzled‐related protein regulates lipidome and transcription for photoreceptor function. The FASEB Journal, 34(1), 912.

Godinho, G., Madeira, C., Grangeia, A., Neves-Cardoso, P., Santos-Silva, R., Brandão, E., ... & Estrela-Silva, S. (2020). A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia. Ophthalmic Genetics, 41(5), 474-479.

Morillo Sanchez, M. J., Llavero Valero, P., González-Del Pozo, M., Ponte Zuniga, B., Antiñolo, G., Ramos Jimenez, M., & Rodríguez De La Rúa Franch, E. (2019). Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study. Ophthalmic Genetics, 40(3), 288-292.

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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

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