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
ADP ribosylation factor like 13B
ADP ribosylation factor like 2 like 1
ADP-ribosylation factor-like protein 13B
ADP-ribosylation factor-like protein 2-like 1
ARL2-like protein 1
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.