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貨期:
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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Regulator of Hedgehog (Hh), required for both activation and inhibition of the Hh pathway in the patterning of the neural tube. During neural tube development, it is required for formation of the most ventral cell types and for full Hh pathway activation. Functions in Hh signal transduction to fully activate the pathway in the presence of high Hh levels and to repress the pathway in the absence of Hh signals. Modulates Hh signal transduction downstream of SMO and RAB23.
基因功能參考文獻(xiàn):
we describe the phenotype of a patient with Varadi syndrome who is homozygous for a previously reported mutation in TCTN1 (NM_001082538.2:c.342-2A>G, p.Gly115Lysfs*8) and suggest that allelic disorders linked to TCTN1 include Varadi syndrome, in addition to Joubert syndrome and Meckel-Gruber syndrome. PMID: 28631893
Flow cytometry analysis showed that depletion of TCTN1 could cause cell cycle arrest at the G2/M phase. This indicates that TCTN1 may be crucial for CRC cell growth. PMID: 28123172
High TCTN1 expression is associated with Pancreatic Cancer. PMID: 26844847
These findings confirmed the direct association between the TCTN1 gene and prostate cancer growth in vitro. PMID: 26310786
These data suggest TCTN1 is essential for glioma cell viability, and dysregulation of TCTN1 may play a key role in glioma tumorigenesis. PMID: 25737023
TCTN1 may serve as a novel prognostic factor and a potential therapeutic target for glioblastoma. PMID: 25304031
Mutations in Tctn1 is associated with ciliopathies. PMID: 21725307