|Western blotting, Immunohistochemistry|
|Rat, not mouse|
Host Species and Isotype:
Specific for Synaptojanin
Synaptojanin is a phosphatidylinositol phosphatase involved in clathrin-mediated endocytosis of synaptic vesicles. Synaptojanin 1 has two alternatively spliced isoforms: one that is ~145 kDa and is exclusively expressed in neurons, and the other is ~170 kDa and is expressed in non-neuronal, peripheral tissues (Ref 1). The gene that encodes Synaptojanin 1, SYNJ1, has been mapped to chromosome 21, thus making it a candidate for involvement in Down's syndrome (DS). It has recently been demonstrated that Ts65Dn mice (the most commonly used model of DS) have altered phosphatidylinositol-4,5-bisphosphate metabolism. This defect is rescued by restoring SYNJ1 to disomy in the Ts65Dn mice (Ref 2).
For research use only. Not intended for any animal or human therapeutic or diagnostic use.
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- Ramjaun AR, McPherson PS. Tissue-specific alternative splicing generates two synaptojanin isoforms with differential membrane binding properties. J Biol Chem. 1996 Oct 4;271(40):24856-61. PubMed PMID: 8798761
- Voronov SV, Frere SG, Giovedi S, Pollina EA, Borel C, Zhang H, Schmidt C, Akeson EC, Wenk MR, Cimasoni L, Arancio O, Davisson MT, Antonarakis SE, Gardiner K, De Camilli P, Di Paolo G. Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome. Proc Natl Acad Sci U S A. 2008 Jul 8;105(27):9415-20. Epub 2008 Jun 30. PubMed PMID: 18591654