The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Protein concentration is above or equal to 0.05 mg/ml.
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Preparation and Storage
Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00 Constituents: 0.31% Glutathione, 0.79% Tris HCl
CDNA: FLJ22167 fis, clone HRC00584
HCG2043031, isoform CRA a
hypothetical protein LOC79583
Putative uncharacterized protein FLJ22167
Transmembrane protein 231
UPF0513 membrane protein
Transmembrane 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 ciliogenesis and sonic hedgehog/SHH signaling.
Involvement in disease
Defects in TMEM231 are the cause of Joubert syndrome 20 (JBTS20) [MIM:614970]. 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 TMEM231 family.
Cell projection > cilium membrane. Localizes to the transition zone of primary cilia; SEPT2 is required for localization to the transition zone.