The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 1 µg/ml. Detects a band of approximately 40 kDa (predicted molecular weight: 49 kDa). Good results were obtained when blocked with 5% non-fat dry milk in 0.05% PBS-T.
Use at an assay dependent concentration. PubMed: 21935430
Involvement in disease
Defects in ARL13B are the cause of Joubert syndrome type 8 (JBTS8) [MIM:612291]. JBTS is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermis 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 small GTPase superfamily. Arf family.