strumpellin (KIAA0196)

Expression

ubiquitously expressed

Pathology

• defects in KIAA0196 are the cause of autosomal dominant spastic paraplegia type 8

More general terms

• other protein

Database

• OMIM: https://mirror.omim.org/entry/603563
• UniProt: http://www.uniprot.org/uniprot/Q12768.html