Spastin
| Spastin | ||
|---|---|---|
| Properties of human protein | ||
| Mass / length primary structure | 616 aa | |
| Secondary to quaternary structure | Homohexamer | |
| Identifier | ||
| Gene names | SPAST ADPSP; FSP2; SPG4 | |
| External IDs | ||
| Enzyme classification | ||
| EC, category | 3.6.4.3 , ATPase | |
| Response type | Splitting off of a phosphate residue | |
| Substrate | ATP + H 2 O | |
| Products | ADP + phosphate | |
| Orthologue | ||
| human | House mouse | |
| Entrez | 6683 | 50850 |
| Ensemble | ENSG00000021574 | ENSMUSG00000024068 |
| UniProt | Q9UBP0 | Q9QYY8 |
| Refseq (mRNA) | NM_014946 | NM_001162870 |
| Refseq (protein) | NP_055761 | NP_001156342 |
| Gene locus | Chr 2: 32.06 - 32.16 Mb | Chr 17: 74.34 - 74.39 Mb |
| PubMed search | 6683 |
50850
|
Spastin (English also spastic paraplegia 4 protein , short SPG4) is a protein . It is encoded by the SPAST gene , which is located on chromosome 2 (2p22.3) in humans. There are two isoforms of spastin due to the presence of two start codons in the SPAST gene. Spastin has 2 structural domains: an AAA domain (ATPases associated with a variety of cellular activities, also AAA cassette) for hydrolysis of ATP and an MIT domain (microtubule interacting and trafficking) for interaction with the microtubules . Spastin plays a role in breaking down microtubules, an important part of the cytoskeleton .
More than 150 different mutations of the SPAST gene are known. They lead to a sub-form of hereditary spastic spinal paralysis , autosomal dominant inherited spastic paraplegia 4 (SPG4).
Individual evidence
- ^ A b S. Salinas, C. Proukakis, A. Crosby, TT Warner: Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. In: Lancet neurology. Volume 7, Number 12, December 2008, pp. 1127-1138, ISSN 1474-4422 . doi : 10.1016 / S1474-4422 (08) 70258-8 . PMID 19007737 . (Review).