atlastin-1; GTP-binding protein 3; guanine nucleotide-binding protein 3; GBP-3; brain-specific GTP-binding protein (ATL1, SPG3A, GBP3)

Function

• binds, via its N-terminal region, to CNH regulatory domain of MAP4K4

Expression

• expressed predominantly in the adult & fetal CNS
• much lower expression other tissues

Pathology

• defects in SPG3A are the cause of spastic paraplegia 3

More general terms

• atlastin
• phosphoprotein

Database

• OMIM: https://mirror.omim.org/entry/182600
• OMIM: https://mirror.omim.org/entry/606439
• UniProt: http://www.uniprot.org/uniprot/Q8WXF7.html