NP_006787.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
88,584 Da
NCBI Official Full Name
AFG3-like protein 2
NCBI Official Synonym Full Names
AFG3-like AAA ATPase 2
NCBI Official Synonym Symbols
NCBI Protein Information
AFG3-like protein 2
UniProt Protein Name
AFG3-like protein 2
UniProt Synonym Protein Names
Paraplegin-like protein
UniProt Entry Name
AFG32_HUMAN
NCBI Summary for AFG3L2
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]
UniProt Comments for AFG3L2
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.-; Membrane protein, multi-pass; Protease; Chaperone; Mitochondrial; Cell development/differentiation; Membrane protein, integral
Chromosomal Location of Human Ortholog: 18p11
Cellular Component: integral to membrane; mitochondrial inner membrane; mitochondrion
Molecular Function: ATP binding; ATP-dependent peptidase activity; metalloendopeptidase activity; metallopeptidase activity; protein binding; unfolded protein binding; zinc ion binding
Biological Process: axonogenesis; cristae formation; mitochondrial fusion; muscle fiber development; myelination; nerve development; neuromuscular junction development; protein complex assembly; protein import into mitochondrial intermembrane space; regulation of multicellular organism growth; righting reflex
Disease: Spastic Ataxia 5, Autosomal Recessive; Spinocerebellar Ataxia 28
Research Articles on AFG3L2
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Products associated with anti-AFG3L2 antibody
Diseases associated with anti-AFG3L2 antibody
Organs/Tissues associated with anti-AFG3L2 antibody
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