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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.
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 (show CALR Antibodies) cell growth.
High TCTN1 expression is associated with Pancreatic Cancer.
These findings confirmed the direct association between the TCTN1 gene and prostate cancer growth in vitro.
These data suggest TCTN1 is essential for glioma cell viability, and dysregulation of TCTN1 may play a key role in glioma tumorigenesis.
TCTN1 may serve as a novel prognostic factor and a potential therapeutic target for glioblastoma.
Mutations in Tctn1 is associated with ciliopathies.
These results suggest that Tctn1, Tctn2 (show TCTN2 Antibodies), and Tctn3 (show TCTN3 Antibodies) are functionally divergent with respect to their role in ciliogenesis and Hedgehog (show SHH Antibodies) signaling but conserved in neural tube patterning and Gli3 (show GLI3 Antibodies) processing.
Loss of Tctn1 is associated with ciliopathies.
During neural tube development, mouse Tectonic is required for formation of the most ventral cell types and for full Hedgehog (show SHH Antibodies) (Hh) pathway activation. Tectonic plays an additional role in repressing Hh pathway activity.
This gene encodes a member of the tectonic family of secreted and transmembrane proteins. The orthologous gene in mouse is required for formation of most ventral cell types. It functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. Multiple transcript variants encoding different isoforms have been found for this gene.
tectonic family member 1
, tectonic 1