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Gene Review

MPP4  -  membrane protein, palmitoylated 4 (MAGUK...

Homo sapiens

Synonyms: ALS2CR5, Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 5 protein, DLG6, Discs large homolog 6, MAGUK p55 subfamily member 4
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Disease relevance of MPP4

  • Colocalization of MPP4 and autosomal recessive retinitis pigmentosa 26 (RP26) on chromosome 2q31-q33 makes this transcript an attractive candidate for the disease gene [1].

High impact information on MPP4


Biological context of MPP4


Anatomical context of MPP4

  • CONCLUSIONS: These data imply that MPP4 and -5 have a role in photoreceptor polarity and, by association with CRB1, pinpoint the cognate genes as functional candidate genes for inherited retinopathies [2].
  • MPP4 and MPP5 are closely related members of the p55-subfamily of membrane-associated guanylate kinases (MAGUKs) known to mediate the assembly of protein complexes at the plasma membrane of cell-cell junctions [3].
  • While MPP4 is a component of the synaptic terminals of photoreceptors, MPP5 exclusively localizes to apical membrane domains of the outer limiting membrane (OLM) junctions [3].
  • Due to the presence of only one PDZ motif, MPP4 is part of the p55 subfamily, named after the major palmitoylated erythrocyte membrane protein p55/MPP1 [1].

Analytical, diagnostic and therapeutic context of MPP4


  1. Cloning and characterization of the human retina-specific gene MPP4, a novel member of the p55 subfamily of MAGUK proteins. Stöhr, H., Weber, B.H. Genomics (2001) [Pubmed]
  2. MPP5 recruits MPP4 to the CRB1 complex in photoreceptors. Kantardzhieva, A., Gosens, I., Alexeeva, S., Punte, I.M., Versteeg, I., Krieger, E., Neefjes-Mol, C.A., den Hollander, A.I., Letteboer, S.J., Klooster, J., Cremers, F.P., Roepman, R., Wijnholds, J. Invest. Ophthalmol. Vis. Sci. (2005) [Pubmed]
  3. Membrane-associated guanylate kinase proteins MPP4 and MPP5 associate with Veli3 at distinct intercellular junctions of the neurosensory retina. Stöhr, H., Molday, L.L., Molday, R.S., Weber, B.H., Biedermann, B., Reichenbach, A., Krämer, F. J. Comp. Neurol. (2005) [Pubmed]
  4. Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa. Conte, I., Lestingi, M., den Hollander, A., Miano, M.G., Alfano, G., Circolo, D., Pugliese, M., Testa, F., Simonelli, F., Rinaldi, E., Baiget, M., Banfi, S., Ciccodicola, A. Gene (2002) [Pubmed]
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