The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use at an assay dependent concentration.
ELISA titre using peptide based assay: 1/312500.
Use a concentration of 1 µg/ml. Predicted molecular weight: 89 kDa. Good results were obtained when blocked with 5% non-fat dry milk in 0.05% PBS-T.
FunctionATP-dependent protease which is essential for axonal development.
Tissue specificityUbiquitous. Highly expressed in the cerebellar Purkinje cells.
Involvement in diseaseDefects in AFG3L2 are the cause of spinocerebellar ataxia type 28 (SCA28) [MIM:610246]. It is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA28 is an autosomal dominant cerebellar ataxia (ADCA) with a slow progressive course and no evidence of sensory involvement or cognitive impairment. Defects in AFG3L2 are the cause of spastic ataxia autosomal recessive type 5 (SPAX5) [MIM:614487]. A neurodegenerative disorder characterized by early onset spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy.
Sequence similaritiesIn the N-terminal section; belongs to the AAA ATPase family. In the C-terminal section; belongs to the peptidase M41 family.