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 ataxia, spastic, 5, autosomal recessive. GO annotations related to this gene include metalloendopeptidase activity and unfolded protein binding. An important paralog of this gene is SPG7.
UniProtKB/Swiss-Prot for AFG3L2 Gene
ATP-dependent protease which is essential for axonal development.