Spatacsin
| Spatacsin | ||
|---|---|---|
| Properties of human protein | ||
| Mass / length primary structure | 278.9 kilodaltons / 2443 amino acids (isoform 1)
236.5 kilodaltons / 2,079 amino acids (isoform 2) |
|
| Secondary to quaternary structure | multipass transmembrane protein | |
| Isoforms | 3 | |
| Identifier | ||
| Gene names | SPG11 , KIAA1840 | |
| External IDs | ||
| Orthologue | ||
| human | House mouse | |
| Entrez | 80208 | 214585 |
| Ensemble | ENSG00000104133 | ENSMUSG00000033396 |
| UniProt | Q96JI7 | Q3UHA3 |
| Refseq (mRNA) | NM_001160227 | NM_145531 |
| Refseq (protein) | NP_001153699 | NP_663506 |
| Gene locus | Chr 15: 44.56 - 44.66 Mb | Chr 2: 122.05 - 122.12 Mb |
| PubMed search | 80208 |
214585
|
Spatacsin (also Spastic paraplegia 11 protein , or SPG11 for short ) is a protein . It is encoded by the SPG11 gene , which is located on chromosome 15 (15q21.1) in humans. Spatacsin is produced in the nervous system , especially in the cerebellum , the cerebral cortex, and the hippocampus . The function of the protein is still unclear.
Several mutations in the SPG11 gene are known. They lead to a sub-form of hereditary spastic paraplegia , the autosomal recessive inherited spastic paraplegia 11 (SPG11).
Individual evidence
- ^ A b S. Salinas, C. Proukakis, A. Crosby, TT Warner: Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. In: The Lancet Neurology . Volume 7, Number 12, December 2008, pp. 1127-1138, doi: 10.1016 / S1474-4422 (08) 70258-8 . PMID 19007737 . (Review).
- ↑ A. Abdel Aleem, N. Abu-Shahba et al. a .: Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum. In: European journal of medical genetics. Volume 54, number 1, 2011 Jan-Feb, pp. 82-85, doi: 10.1016 / j.ejmg.2010.10.006 . PMID 20971220 . PMC 3073376 (free full text).