spartin (trans-activated by hepatitis C virus core protein 1, SPG20, KIAA0610, TAHCCP1)

Function

• role in endosomal trafficking, or microtubule dynamics, or both

Structure

• contains 1 MIT domain

Alternative splicing

named isoforms=2

Expression

• ubiquitously expressed, highest expression adipose tissue

Pathology

Defects in SPG20 are the cause of spastic paraplegia 20

More general terms

• other protein

Database

• OMIM: https://mirror.omim.org/entry/275900
• OMIM: https://mirror.omim.org/entry/607111
• UniProt: http://www.uniprot.org/uniprot/Q8N0X7.html