ATP-dependent protease which is essential for axonal development.
Ubiquitous. Highly expressed in the cerebellar Purkinje cells.
Involvement in disease
Defects 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.
In the N-terminal section; belongs to the AAA ATPase family. In the C-terminal section; belongs to the peptidase M41 family.
Immunohistochemical analysis of formalin fixed and paraffin embedded Human cerebellum tissue labeling AFG3L2 with ab171617 at 1/10 dilution, followed by peroxidase conjugation of the secondary antibody and DAB staining.
Western blot - Anti-AFG3L2 antibody - N-terminal (ab171617)
All lanes : Anti-AFG3L2 antibody - N-terminal (ab171617) at 1/100 dilution
Lane 1 : MDA-MB453 cell line lysate Lane 2 : MCF-7 cell line lysate Lane 3 : Jurkat cell line lysate