Symbol: Name: ID: |
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) GFS:1129 |
Gene name: | SPG7 |
Chromosome: | 16q24.3 |
Previous Symbols: | CMAR |
Previous Names: | cell matrix adhesion regulator |
Aliases: | CAR, SPG5C |
Name Aliases: | paraplegin |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2385906 | Rat Genome Database ID: | RGD:727940 |
HGNC ID: | HGNC:11237 | RefSeq IDs: | NM_003119 |
Entrez Gene ID: | 6687 | Ensembl Gene ID: | ENSG00000197912 |
VEGA IDs: | OTTHUMG00000138046 | UniProt ID: | Q9UQ90 |
UCSC ID: | uc002fnj.2 | OMIM ID: | 602783 |
Pubmed: | PMID9635427 PMID 9634528 | ||
CCDS IDs: | CCDSCCDS10977.1 CCDS CCDS10978.1 |
Paraplegin is a protein that in humans is encoded by the SPG7 gene. This gene encodes a nuclear-encoded mitochondrial metalloprotease protein that is a member of the AAA (ATPases associated with a variety of cellular activities) 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. [provided by RefSeq].
Function: Putative ATP-dependent zinc metalloprotease.
Products for SPG7 gene
Catalog | Product Name | Application | Company |
GFS:E01129 | spastic paraplegia 7 (pure and complicated autosomal recessive); ELISA kit | ELISA | n/a |
GFS:A01129 | spastic paraplegia 7 (pure and complicated autosomal recessive); Anti | ANTIBODIES | n/a |
GFS:P01129 | spastic paraplegia 7 (pure and complicated autosomal recessive); Protien | Protien | n/a |