| Tectonic-2 ELISA Kit|
|TCTN2: 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. Required for hedgehog signaling transduction. Defects in TCTN2 are the cause of Meckel syndrome type 8 (MKS8). A disorder characterized by a combination of renal cysts and variabl |
y associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Defects in TCTN2 may be a cause of Joubert syndrome, 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. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral
Molecular Function: protein binding
Biological Process: smoothened signaling pathway
| Tctn2 ELISA Kit|
| Tect2 ELISA Kit|