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Shroom family member 2

APXL, Shroom2
The protein encoded by this gene shares significant similarities with the apical protein from Xenopus laevis which is implicated in amiloride-sensitive sodium channel activity. This gene is a strong candidate gene for ocular albinism type 1 syndrome. [provided by RefSeq, Jul 2008] (from NCBI)
Papers on APXL
Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.
Houlston et al., Edinburgh, United Kingdom. In Nat Genet, 2012
We identified three new CRC risk loci at 6p21 (rs1321311, near CDKN1A; P = 1.14 x 10(-10)), 11q13.4 (rs3824999, intronic to POLD3; P = 3.65 x 10(-10)) and Xp22.2 (rs5934683, near SHROOM2; P = 7.30 x 10(-10)).
Shroom2 regulates contractility to control endothelial morphogenesis.
Hildebrand et al., Pittsburgh, United States. In Mol Biol Cell, 2011
Data suggest that Shroom2 facilitates the formation of a contractile network within endothelial cells, the loss of which leads to an increase in endothelial sprouting, migration, and angiogenesis.
Shroom2, a myosin-VIIa- and actin-binding protein, directly interacts with ZO-1 at tight junctions.
El-Amraoui et al., Paris, France. In J Cell Sci, 2007
Shroom2 and ZO-1 form a tight-junction-associated scaffolding complex, possibly linked to myosin VIIa, that bridges the junctional membrane to the underlying cytoskeleton, thereby contributing to the stabilization of these junctions.
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