Gene Symbol | AFG3L2 |
Entrez Gene ID | 10939 |
Full Name | AFG3 like matrix AAA peptidase subunit 2 |
Synonyms | SCA28,SPAX5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Spinocerebellar ataxia 28, 610246 (3); Spastic ataxia 5, autosomal recessive, 614487 (3) |