Paraplegin

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Spastic paraplegia 7 (pure and complicated autosomal recessive)
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols SPG7 ; CAR; CMAR; PGN; SPG5C
External IDs OMIM602783 MGI2385906 HomoloGene31133 GeneCards: SPG7 Gene
RNA expression pattern
PBB GE SPG7 202104 s at tn.png
PBB GE SPG7 214494 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6687 234847
Ensembl ENSG00000197912 ENSMUSG00000000738
UniProt Q9UQ90 Q3ULF4
RefSeq (mRNA) NM_003119 NM_153176
RefSeq (protein) NP_003110 NP_694816
Location (UCSC) Chr 16:
89.56 – 89.62 Mb
Chr 8:
123.06 – 123.1 Mb
PubMed search [1] [2]

Paraplegin is a protein that in humans is encoded by the SPG7 gene.[1][2][3]

This gene encodes a nuclear-encoded mitochondrial metalloprotease protein that is a member of the AAA protein 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. Two transcript variants encoding distinct isoforms have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 7.[3]

External links[edit]

References[edit]

  1. ^ Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, Filla A, Cocozza S, Marconi R, Durr A, Fontaine B, Ballabio A (Jul 1998). "Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease". Cell 93 (6): 973–83. doi:10.1016/S0092-8674(00)81203-9. PMID 9635427. 
  2. ^ De Michele G, De Fusco M, Cavalcanti F, Filla A, Marconi R, Volpe G, Monticelli A, Ballabio A, Casari G, Cocozza S (Aug 1998). "A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3". Am J Hum Genet 63 (1): 135–9. doi:10.1086/301930. PMC 1377251. PMID 9634528. 
  3. ^ a b "Entrez Gene: SPG7 spastic paraplegia 7, paraplegin (pure and complicated autosomal recessive)". 

Further reading[edit]