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Gene Review

MFRP  -  membrane frizzled-related protein

Homo sapiens

Synonyms: C1QTNF5, FLJ30570, MCOP5, Membrane frizzled-related protein, Membrane-type frizzled-related protein, ...
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Disease relevance of MFRP


High impact information on MFRP


Biological context of MFRP

  • RESULTS: The Mfrp gene is specifically expressed in RPE and ciliary body (CB), and its expression starts during early stages of embryogenesis [1].
  • MFRP molecular analysis disclosed a one base pair insertion in exon 5 (c.498_499insC) in all affected individuals, a mutation that predicts a truncated protein (P165fsX198) [3].
  • The MFRP gene on 11q23 consisted of at least 13 exons [4].
  • In addition to CRD, two tandem-repeats containing the Cubilin domain approximately the MFRP domain were present in the extracellular region of MFRP [4].
  • For these reasons, we investigated MFRP as a candidate gene for a phenotype associated with mutations [7].

Anatomical context of MFRP


Associations of MFRP with chemical compounds

  • MFRP is a member of the frizzled-related protein family and contains a cysteine-rich domain essential for Wnt binding and signaling [7].

Other interactions of MFRP

  • We have cloned and characterized MFRP and RNF26 genes at 11q23 [8].
  • We demonstrated that this clinical association is caused by a mutation in MFRP, a gene previously implicated in isolated nanophthalmos [3].
  • Ophthalmologic manifestations, fundus photographs, ultrasonographic (US) assessment, electroretinography (ERG), fluorescein retinal angiography (FA), Goldmann kinetic perimetry (GKP), and optical coherence tomography (OCT), as well as mutational status of MFRP and CHX10 genes in genomic DNA [3].
  • ABCG4, NCAM, and Mfrp are candidate genes in this region that theoretically may be disrupted [9].
  • Although MFRP was homologous to Corin, FZDs, and SFRPs in CRD, amino-acid identities between CRD in MFRP and CRDs in these molecules were less than 40% [4].

Analytical, diagnostic and therapeutic context of MFRP


  1. Spatial and Temporal Expression of MFRP and Its Interaction with CTRP5. Mandal, M.N., Vasireddy, V., Jablonski, M.M., Wang, X., Heckenlively, J.R., Hughes, B.A., Reddy, G.B., Ayyagari, R. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  2. Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. Sundin, O.H., Leppert, G.S., Silva, E.D., Yang, J.M., Dharmaraj, S., Maumenee, I.H., Santos, L.C., Parsa, C.F., Traboulsi, E.I., Broman, K.W., Dibernardo, C., Sunness, J.S., Toy, J., Weinberg, E.M. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  3. A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. Ayala-Ramirez, R., Graue-Wiechers, F., Robredo, V., Amato-Almanza, M., Horta-Diez, I., Zenteno, J.C. Mol. Vis. (2006) [Pubmed]
  4. Molecular cloning and characterization of MFRP, a novel gene encoding a membrane-type Frizzled-related protein. Katoh, M. Biochem. Biophys. Res. Commun. (2001) [Pubmed]
  5. Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5. Shu, X., Tulloch, B., Lennon, A., Vlachantoni, D., Zhou, X., Hayward, C., Wright, A.F. Hum. Mol. Genet. (2006) [Pubmed]
  6. Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6. Kameya, S., Hawes, N.L., Chang, B., Heckenlively, J.R., Naggert, J.K., Nishina, P.M. Hum. Mol. Genet. (2002) [Pubmed]
  7. Mutation screen of the membrane-type frizzled-related protein (MFRP) gene in patients with inherited retinal degenerations. Pauer, G.J., Xi, Q., Zhang, K., Traboulsi, E.I., Hagstrom, S.A. Ophthalmic Genet. (2005) [Pubmed]
  8. Identification and characterization of TPARM gene in silico. Katoh, M., Katoh, M. Int. J. Oncol. (2003) [Pubmed]
  9. The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literature. Miller, G.L., Somani, S., Nowaczyk, M.J., Feigenbaum, A., Davidson, R.G., Costa, T., Levin, A.V. Ophthalmic Genet. (2006) [Pubmed]
  10. Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. Ayyagari, R., Mandal, M.N., Karoukis, A.J., Chen, L., McLaren, N.C., Lichter, M., Wong, D.T., Hitchcock, P.F., Caruso, R.C., Moroi, S.E., Maumenee, I.H., Sieving, P.A. Invest. Ophthalmol. Vis. Sci. (2005) [Pubmed]
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