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

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Gene Review: 

LAMTOR2  -  late endosomal/lysosomal adaptor, MAPK and...

Homo sapiens

Synonyms: ENDAP, Endosomal adaptor protein p14, HSPC003, Late endosomal/lysosomal Mp1-interacting protein, Late endosomal/lysosomal adaptor and MAPK and MTOR activator 2, ...
 
 
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High impact information on MAPBPIP

  • Combining genetic linkage studies and transcriptional profiling analysis, we identified a homozygous point mutation in the 3' untranslated region (UTR) of p14 (also known as MAPBPIP), resulting in decreased protein expression [1].
  • The volume estimates in newborn and p14 mice suggest that the overgrowth in mceph/mceph hippocampus starts between birth and the second week of life [2].

References

  1. A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14. Bohn, G., Allroth, A., Brandes, G., Thiel, J., Glocker, E., Sch??ffer, A.A., Rathinam, C., Taub, N., Teis, D., Zeidler, C., Dewey, R.A., Geffers, R., Buer, J., Huber, L.A., Welte, K., Grimbacher, B., Klein, C. Nat. Med. (2007) [Pubmed]
  2. Lack of potassium channel induces proliferation and survival causing increased neurogenesis and two-fold hippocampus enlargement. Almgren, M., Persson, A.S., Fenghua, C., Witgen, B.M., Schalling, M., Nyengaard, J.R., Lavebratt, C. Hippocampus (2007) [Pubmed]
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