AFG3L2 Antibody – Rabbit Polyclonal

This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008]

AFG3L2: ATP-dependent protease which is essential for axonal development. Defects in AFG3L2 are the cause of spinocerebellar ataxia type 28 (SCA28). 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). A neurodegenerative disorder characterized by early onset spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy.

Protein type: EC 3.4.24.-; Cell development/differentiation; Membrane protein, integral; Mitochondrial; Protease; Membrane protein, multi-pass; Chaperone

Chromosomal Location of Human Ortholog: 18p11

Cellular Component: mitochondrial inner membrane; mitochondrion

Molecular Function: ATP-dependent peptidase activity; metallopeptidase activity; protein binding; unfolded protein binding

Biological Process: cristae formation; mitochondrial fusion; nerve development; protein complex assembly; protein import into mitochondrial intermembrane space

Disease: Spastic Ataxia 5, Autosomal Recessive; Spinocerebellar Ataxia 28