Aliases for AFG3L2 Gene
External Ids for AFG3L2 Gene
Previous HGNC Symbols for AFG3L2 Gene
Previous GeneCards Identifiers for AFG3L2 Gene
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]
GeneCards Summary for AFG3L2 Gene
AFG3L2 (AFG3 Like Matrix AAA Peptidase Subunit 2) is a Protein Coding gene. Diseases associated with AFG3L2 include Spinocerebellar Ataxia 28 and Spastic Ataxia 5, Autosomal Recessive. Among its related pathways are Spinocerebellar ataxia. Gene Ontology (GO) annotations related to this gene include metalloendopeptidase activity and unfolded protein binding. An important paralog of this gene is SPG7.
UniProtKB/Swiss-Prot Summary for AFG3L2 Gene
ATP-dependent protease which is essential for axonal and neuron development. In neurons, mediates degradation of SMDT1/EMRE before its assembly with the uniporter complex, limiting the availability of SMDT1/EMRE for MCU assembly and promoting efficient assembly of gatekeeper subunits with MCU (PubMed:27642048). Required for the maturation of paraplegin (SPG7) after its cleavage by mitochondrial-processing peptidase (MPP), converting it into a proteolytically active mature form (By similarity). Required for the maturation of PINK1 into its 52kDa mature form after its cleavage by mitochondrial-processing peptidase (MPP) (PubMed:22354088).