Gene Symbol | SPG7 |
Entrez Gene ID | 6687 |
Full Name | SPG7, paraplegin matrix AAA peptidase subunit |
Synonyms | CAR,CMAR,PGN,SPG5C |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014]. |
Disorder MIM: | |
Disorder Html: | Spastic paraplegia 7, autosomal recessive, 607259 (3) |