Spastin

Spastin
Spastin

—
Masse/Länge Primärstruktur 616 aa
Sekundär- bis Quartärstruktur Homohexamer
Bezeichner
Gen-Name SPAST
Externe IDs OMIM: 604277 UniProt: Q9UBP0
Enzymklassifikation
EC, Kategorie ATPase
Reaktionsart Abspaltung eines Phosphatrests
Substrat ATP + H2O
Produkte ADP + Phosphat

Spastin (engl. auch spastic paraplegia 4 protein, kurz SPG4) ist ein Protein. Es wird vom SPAST-Gen kodiert, das beim Menschen auf Chromosom 2 (2p22.3) lokalisiert ist. Es gibt zwei Isoformen des Spastins aufgrund von zwei vorhandenen Startcodons im SPAST-Gen. Spastin besitzt 2 strukturelle Domänen: eine AAA-Domäne (ATPases associated with a variety of cellular activities, auch AAA-Kassette) zur Hydrolysierung von ATP und eine MIT-Domäne (microtubule interacting and trafficking) zur Interaktion mit den Mikrotubuli. Spastin spielt eine Rolle beim Abbau der Mikrotubuli, einem wichtigen Bestandteil des Zytoskeletts.[1]

Mehr als 150 verschiedene Mutationen des SPAST-Gens sind bekannt. Sie führen zu einer Unterform der hereditären spastischen Spinalparalysen, der autosomal-dominant vererbten spastischen Paraplegie 4 (SPG4).[1]

Einzelnachweise

  1. ↑ a b S. Salinas, C. Proukakis, A. Crosby, T. T. Warner: Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. In: Lancet neurology. Band 7, Nummer 12, Dezember 2008, S. 1127–1138, ISSN 1474-4422. doi:10.1016/S1474-4422(08)70258-8. PMID 19007737. (Review).

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