| Symbol: Name: ID: |
SPG11 spastic paraplegia 11 (autosomal recessive) GFS:1122 |
| Gene name: | SPG11 |
| Chromosome: | 15q13-q15 |
| Previous Symbols: | KIAA1840 |
| Previous Names: | KIAA1840 |
| Aliases: | FLJ21439 |
| Name Aliases: | spatacsin |
| Locus Type: | gene with protein product |
| Mouse Genome Database ID: | MGI:2444989 | Rat Genome Database ID: | |
| HGNC ID: | HGNC:11226 | RefSeq IDs: | NM_001160227 |
| Entrez Gene ID: | 80208 | Ensembl Gene ID: | ENSG00000104133 |
| VEGA IDs: | OTTHUMG00000131199 | UniProt ID: | Q96JI7 |
| UCSC ID: | uc001ztx.2 | OMIM ID: | 610844 |
| Pubmed: | PMID10408536 PMID 17322883 | ||
| CCDS IDs: | CCDSCCDS10112.1 | ||
Spatacsin is a protein that in humans is encoded by the SPG11 gene. The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq].
Products for SPG11 gene
| Catalog | Product Name | Application | Company |
| GFS:E01122 | spastic paraplegia 11 (autosomal recessive); ELISA kit | ELISA | n/a |
| GFS:A01122 | spastic paraplegia 11 (autosomal recessive); Anti | ANTIBODIES | n/a |
| GFS:P01122 | spastic paraplegia 11 (autosomal recessive); Protien | Protien | n/a |
