TCTN1, Polyclonal Antibody

Tectonic family member 1, TECT1

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit

Affinity chromatography purified via peptide column

Supplied in PBS containing 0.02% sodium azide.

Can be stored at -20 degree C, stable for one year. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures.

Small volumes of anti-TCTN1 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

TCTN1 is the founding member of the Tectonic protein family, a group of evolutionarily conserved secreted and transmembrane proteins that regulate the Hedgehog (Hh)-mediated patterning of the neural tube. During embryonic development, TCTN1 is expressed in regions that participate in Hh signaling, beginning in the gastrulation stages in the ventral node. Mice expressing mutant TCTN1 die between E13.5 and E16.5 and display holoprosencephaly, a defect associated with reduced Hh signaling, indicating the role of TCTN1 as an Hh activator. At later stages in development, TCTN1 is thought to also act as a repressor on the Hh pathway in the anterior and posterior neural tube.

Total protein Ab

ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC)

Western blot analysis of TCTN1 in mouse kidney tissue lysate with TCTN1 antibody at (A) 1 and (B) 2ug/mL.

Immunohistochemistry of TCTN1 in human kidney tissue with TCTN1 antibody at 5 ug/mL.

28,532 Da

tectonic family member 1

tectonic-1

Tectonic-1

TECT1  [Similar Products]

TECT1_HUMAN

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. [provided by RefSeq, Jul 2008]

TCTN1: 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. Defects in TCTN1 are the cause of Joubert syndrome type 13 (JBTS13). JBTS13 is a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Belongs to the tectonic family. 6 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 12q24.11

Cellular Component: extracellular space; cytoskeleton; membrane; cytosol

Biological Process: telencephalon development; central nervous system interneuron axonogenesis; somatic motor neuron differentiation; in utero embryonic development; organelle organization and biogenesis; neural tube formation; dorsoventral neural tube patterning; regulation of smoothened signaling pathway

Disease: Joubert Syndrome 13

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