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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

MCOLN3  -  mucolipin 3

Homo sapiens

Synonyms: FLJ11006, Mucolipin-3, TRP-ML3, TRPML3
 
 
 
 
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High impact information on MCOLN3

  • Last, MCOLN2 and MCOLN3 are candidate genes for hereditary and/or sporadic forms of neurosensory disorders in humans [1].
  • Hair cell defects are apparent by embryonic day 17.5, assigning Mcoln3 an essential role during early hair cell maturation [1].
  • Our data suggest that Mcoln3 is involved in ion homeostasis and acts cell-autonomously [1].
  • Mcoln3 localizes to cytoplasmic compartments of hair cells and plasma membrane of stereocilia [1].

References

  1. Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice. Di Palma, F., Belyantseva, I.A., Kim, H.J., Vogt, T.F., Kachar, B., Noben-Trauth, K. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
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