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Gene Review

MLPH  -  melanophilin

Homo sapiens

Synonyms: Exophilin-3, Melanophilin, SLAC2A, SlaC2-a, Slac-2a, ...
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Disease relevance of MLPH

  • In breast tumor tissue specimens, expression of ln alpha 3 and beta 3 mRNAs tended to be reduced relative to levels observed in adjacent nontumor tissue, whereas in gamma 2 levels were elevated in specimens with increased amounts of myoepithelial cells [1].
  • The combination of Ida/Bu/Melph appears a promising alternative regimen for PBSCT in myeloma, with low transplant-related toxicity and fast hematological recovery [2].

High impact information on MLPH


Biological context of MLPH


Anatomical context of MLPH


Associations of MLPH with chemical compounds


Physical interactions of MLPH

  • Here, we show by reconstitution using purified proteins that Rab27a and Mlph are sufficient to form a transport complex with myosin Va in vitro [10].

Other interactions of MLPH


Analytical, diagnostic and therapeutic context of MLPH

  • In our study comparing Cy and TBI with Melph and TBI in AML, we have shown a significant increase in antileukemic activity after transplantation following the latter conditioning regimen [14].
  • In the single-arm ALL autograft study our results were very encouraging and suggest that Melph/TBI can produce disease-free survival results at least as good as with other conditioning regimens [14].


  1. Down-regulation of laminin-5 in breast carcinoma cells. Martin, K.J., Kwan, C.P., Nagasaki, K., Zhang, X., O'Hare, M.J., Kaelin, C.M., Burgeson, R.E., Pardee, A.B., Sager, R. Mol. Med. (1998) [Pubmed]
  2. High-dose idarubicine, busulphan and melphalan as conditioning for autologous blood stem cell transplantation in multiple myeloma. A feasibility study. Meloni, G., Capria, S., Trasarti, S., Ferrazza, G., Micozzi, A., Petrucci, M.T., Simone, F., Trisolini, S.M., Mandelli, F. Bone Marrow Transplant. (2000) [Pubmed]
  3. A coiled-coil domain of melanophilin is essential for Myosin va recruitment and melanosome transport in melanocytes. Hume, A.N., Tarafder, A.K., Ramalho, J.S., Sviderskaya, E.V., Seabra, M.C. Mol. Biol. Cell (2006) [Pubmed]
  4. A homozygous single-base deletion in MLPH causes the dilute coat color phenotype in the domestic cat. Ishida, Y., David, V.A., Eizirik, E., Sch??ffer, A.A., Neelam, B.A., Roelke, M.E., Hannah, S.S., O'brien, S.J., Menotti-Raymond, M. Genomics (2006) [Pubmed]
  5. Polymorphisms within the canine MLPH gene are associated with dilute coat color in dogs. Philipp, U., Hamann, H., Mecklenburg, L., Nishino, S., Mignot, E., Günzel-Apel, A.R., Schmutz, S.M., Leeb, T. BMC Genet. (2005) [Pubmed]
  6. Interactions of human Myosin Va isoforms, endogenously expressed in human melanocytes, are tightly regulated by the tail domain. Westbroek, W., Lambert, J., Bahadoran, P., Busca, R., Herteleer, M.C., Smit, N., Mommaas, M., Ballotti, R., Naeyaert, J.M. J. Invest. Dermatol. (2003) [Pubmed]
  7. The roles of Rab27 and its effectors in the regulated secretory pathways. Izumi, T., Gomi, H., Kasai, K., Mizutani, S., Torii, S. Cell Struct. Funct. (2003) [Pubmed]
  8. Enhancement of cytogenetic damage by inhibitors of poly(ADP-ribose)polymerase in human lymphocytes exposed to antineoplastics in vivo and in vitro. Mourelatos, D., Kourakis, A., Koliouskas, D.E., Hatzitheodoridou, P., Dozi-Vassiliades, J. Teratog., Carcinog. Mutagen. (1986) [Pubmed]
  9. Synergistic induction of sister-chromatid exchanges in lymphocytes from normal subjects and from patients under cytostatic therapy by inhibitors of poly(ADP-ribose)polymerase and antitumour agents. Mourelatos, D., Kourakis, A., Dozi-Vassiliades, J., Tsiouris, J., Hatzitheodoridou, P. Mutat. Res. (1985) [Pubmed]
  10. In vitro reconstitution of a transport complex containing Rab27a, melanophilin and myosin Va. Wu, X., Sakamoto, T., Zhang, F., Sellers, J.R., Hammer, J.A. FEBS Lett. (2006) [Pubmed]
  11. Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-Myosin Va transcripts. Westbroek, W., Lambert, J., De Schepper, S., Kleta, R., Van Den Bossche, K., Seabra, M.C., Huizing, M., Mommaas, M., Naeyaert, J.M. Pigment Cell Res. (2004) [Pubmed]
  12. The melanosome as a model to study organelle motility in mammals. Barral, D.C., Seabra, M.C. Pigment Cell Res. (2004) [Pubmed]
  13. Chromosomal assignment of the canine melanophilin gene (MLPH): a candidate gene for coat color dilution in Pinschers. Philipp, U., Quignon, P., Scott, A., André, C., Breen, M., Leeb, T. J. Hered. (2005) [Pubmed]
  14. Bone marrow transplantation--the Marsden experience. Tiley, C., Powles, R. Clinical transplants. (1990) [Pubmed]
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