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抗Human SHROOM3 抗体:
Functional variants were further confirmed by western blot and the mammalian two-hybrid assays. Loss of function (LoF) variants were identified in SHROOM3. We observed 1.56 times as many rare [minor allele frequency (MAF) < 0.01] coding variants (p = 2.9 x 10(-3)) in SHROOM genes, and 4.5 times as many rare D-Mis (deleterious missense) variants in SHROOM2 genes in the Neural tube defects cases compared with the controls
Two protein-truncating de novo mutations in two independent cases in SHROOM3 strongly implicates this protein in severe human neural tube defects.
variants disrupting the actin-binding domain of SHROOM3 may cause podocyte effacement and impairment of the glomerular filtration barrier
The SNP rs17319721 functions as a cis-acting expression quantitative trait locus of SHROOM3 that facilitates TGF-B1 signaling and contributes to allograft injury.
RESULTS: rs1260326 in GCKR (beta=1.30, P = 3.23E-03), rs17319721 in SHROOM3 (beta = -1.28, P-value = 3.18E-03) and rs12917707 in UMOD (beta = 2.0, P-value = 8.84E-04) were significantly associated with baseline estimated GFR
A recessive missense mutation in SHROOM3 is associated with heterotaxy syndrome.
Shroom3 has a role in apical constriction during lens pit morphogenesis and is recruited in a pathway involving p120-catenin
findings reveal that Lulu is essential for Shroom3-dependent apical constriction during vertebrate neural tube closure
Shroom3 and N-cadherin function cooperatively downstream of Pitx2 to directly regulate cell shape changes necessary for early gut tube morphogenesis
Scaffold protein POSH, in association with Shroom3 and mixed lineage kinase LZK, relays axon outgrowth inhibition downstream of NogoA and PirB proteins.
expression of Shroom3 is dependent on the crucial lens-induction transcription factor Pax6
Shroom likely facilitates neural tube closure by regulating cell shape changes via the apical positioning of an actomyosin network in the neurepithelium.
In the invaginating neural plate/tube, Shroom3 colocalized with ROCKs at the apical junctions; Shroom3 depletion or RII-C1 expression in the tube removed these apically localized ROCKs, and concomitantly blocked neural tube closure.
Pitx proteins activate Shroom3 transcription and Pitx-responsive regulatory elements appeear in the genomic DNA upstream of Shroom3 in Xenopus.
Shroom family proteins govern epithelial cell behaviors by coordinating the assembly of both microtubule and actin cytoskeletons.
This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mice is required for proper neurulation.
shroom family member 3
, protein Shroom3-like
, F-actin-binding protein
, protein Shroom3
, shroom-related protein
, shroom-like protein