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Gene Review

Slc45a2  -  solute carrier family 45, member 2

Mus musculus

Synonyms: Aim-1, Aim1, Dbr, Matp, Melanoma antigen AIM1, ...
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Disease relevance of Slc45a2


High impact information on Slc45a2


Biological context of Slc45a2


Anatomical context of Slc45a2

  • To characterize OCA4, we investigated the processing and sorting of melanogenic proteins in primary melanocytes derived from uw/uw mice and from wild-type mice [1].

Other interactions of Slc45a2

  • We show that the uw locus is genetically distinct from Myo10, a suggested candidate gene for this mutation [9].


  1. Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4. Costin, G.E., Valencia, J.C., Vieira, W.D., Lamoreux, M.L., Hearing, V.J. J. Cell. Sci. (2003) [Pubmed]
  2. Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF. Du, J., Fisher, D.E. J. Biol. Chem. (2002) [Pubmed]
  3. The underwhite (uw) locus acts autonomously and reduces the production of melanin. Lehman, A.L., Silvers, W.K., Puri, N., Wakamatsu, K., Ito, S., Brilliant, M.H. J. Invest. Dermatol. (2000) [Pubmed]
  4. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Newton, J.M., Cohen-Barak, O., Hagiwara, N., Gardner, J.M., Davisson, M.T., King, R.A., Brilliant, M.H. Am. J. Hum. Genet. (2001) [Pubmed]
  5. Aberrant quantity and localization of Aurora-B/AIM-1 and survivin during megakaryocyte polyploidization and the consequences of Aurora-B/AIM-1-deregulated expression. Zhang, Y., Nagata, Y., Yu, G., Nguyen, H.G., Jones, M.R., Toselli, P., Jackson, C.W., Tatsuka, M., Todokoro, K., Ravid, K. Blood (2004) [Pubmed]
  6. The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell precursors during mouse embryonic development. Baxter, L.L., Pavan, W.J. Mech. Dev. (2002) [Pubmed]
  7. Chromosomal location of soluble glutamic-pyruvic transaminase-1 (Gpt-1) in the mouse. Eicher, E.M., Womack, J.E. Biochem. Genet. (1977) [Pubmed]
  8. Repression of AIM-1 kinase mRNA as part of a program of genes regulated by Mpl ligand. Zhang, Y., Sun, S., Chen, W.C., Kaluzhny, Y., Chinnappan, D., Yu, G., Ravid, K. Biochem. Biophys. Res. Commun. (2001) [Pubmed]
  9. A new allelic series for the underwhite gene on mouse chromosome 15. Sweet, H.O., Brilliant, M.H., Cook, S.A., Johnson, K.R., Davisson, M.T. J. Hered. (1998) [Pubmed]
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