maspardin (spastic paraplegia 21 autosomal recessive Mast syndrome protein, acid cluster protein 33, SPG21, ACP33, BM-019, GL010)

Function

• role as a negative regulatory factor in CD4-dependent T-cell activation
• interacts with CD4

Structure

• belongs to the AB hydrolase superfamily

Compartment

• cytoplasm, peripheral membrane, endosomal membrane, trans-Golgi
• colocalizes with CD4 on endosomal/trans-Golgi network

Expression

• expressed in all tissues tested, including heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas

Pathology

• defects in SPG21 are the cause of Mast syndrome

More general terms

• other protein

Database

• OMIM: https://mirror.omim.org/entry/248900
• OMIM: https://mirror.omim.org/entry/608181
• UniProt: http://www.uniprot.org/uniprot/Q9NZD8.html