QuickView for SPG7;jsessionid=64EE3FB6B9C8693E79AC5B369EF2B336 (gene)

Gene Symbol:

SPG7 Homo sapiens

Full name:

SPG7, paraplegin matrix AAA peptidase subunit

Synonyms:

CAR, CMAR, PGN, SPG5C, paraplegin, cell matrix adhesion regulator, spastic paraplegia 7 (pure and complicated autosomal recessive), spastic paraplegia 7 protein

Genomic Location:

Chr 16: 88102306-88151675

Description:

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 recess...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Gallus gallus ,  Canis lupus familiaris ,  Bos taurus ,  Pan troglodytes ,  Danio rerio

External Links:

Entrez Gene

Cytogenetic Map:

16q24.3

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