spastin (SPAST, KIAA1083, SPG4)

Function

• ATPase involved in the assembly or function of nuclear protein complexes (putative)
• role in microtubule dynamics (putative)
• interacts directly with CHMT1B & ZFYVE27

Structure

• belongs to the AAA ATPase family
• contains 1 MIT domain

Compartment

nucleus, cytoplasm, perinuclear region

Alternative splicing

named isoforms=2

Expression

• ubiquitous

Pathology

• defects in SPAST are the cause of spastic paraplegia type 4

More general terms

• AAA ATPase family
• nuclear protein

Database

• OMIM: https://mirror.omim.org/entry/182601
• OMIM: https://mirror.omim.org/entry/604277
• UniProt: http://www.uniprot.org/uniprot/Q9UBP0.html