cd02679

MIT_spastin

CDD entry
Member databaseCDD
CDD typedomain
Short nameMIT_spastin
SetMIT

Description

MIT: domain contained within Microtubule Interacting and Trafficking molecules. This MIT domain sub-family is found in the AAA protein spastin, a probable ATPase involved in the assembly or function of nuclear protein complexes; spastins might also be involved in microtubule dynamics. The molecular function of the MIT domain is unclear.
[3, 2, 4, 1]

References

1.Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D, Artiguenave F, Davoine CS, Cruaud C, Durr A, Wincker P, Brottier P, Cattolico L, Barbe V, Burgunder JM, Prud'homme JF, Brice A, Fontaine B, Heilig B, Weissenbach J. Nat. Genet. 23, 296-303, (1999). View articlePMID: 10610178

2.The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. Ciccarelli FD, Proukakis C, Patel H, Cross H, Azam S, Patton MA, Bork P, Crosby AH. Genomics 81, 437-41, (2003). View articlePMID: 12676568

3.The hereditary spastic paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and function. Trotta N, Orso G, Rossetto MG, Daga A, Broadie K. Curr Biol 14, 1135-47, (2004). PMID: 15242610

4.SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH. Nat Genet 31, 347-8, (2002). PMID: 12134148

This website requires cookies, and the limited processing of your personal data in order to function. By using the site you are agreeing to this as outlined in our Privacy Notice and Terms of Use.