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anti-Human SHROOM3 Antikörper:
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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.
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