The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 1.25 µg/ml. Detects a band of approximately 36 kDa (predicted molecular weight: 36 kDa). Good results were obtained when blocked with 5% non-fat dry milk in 0.05% PBS-T.
Use at an assay dependent concentration.
ELISA titre using peptide based assay: 1/312500.
Use a concentration of 4 - 8 µg/ml.
FunctionTransmembrane 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 diseaseDefects 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.
Sequence similaritiesBelongs to the TMEM231 family.
Cellular localizationCell projection > cilium membrane. Localizes to the transition zone of primary cilia; SEPT2 is required for localization to the transition zone.