| Type: | Family | Name: | Maspardin |
| Description: | The maspardin protein (Mast syndrome, spastic paraplegia, autosomal recessive with dementia) is a member of the AB hydrolase superfamily that has been shown to localise to intracellular endosomal/trans-Golgi transportation vesicles and may function in protein transport and sorting []. The protein has also been shown to interact with CD4, and may play a role as a negative regulatory factor in CD4-dependent T-cell activation []. Although sequence alignments show maspardin to be a member of the AB hydrolase superfamily, they also show it to lack the nucleophile-acid-histidine triad required for catalytic function, suggesting that maspardin is unlikely to function as an enzyme []. Defects in the maspardin gene are the cause of spastic paraplegia autosomal recessive type 21 (SPG21), also known as Mast syndrome. Mast syndrome is a neurodegenerative disorder characterised by a slow, gradual, progressive weakness and spasticity of the lower limbs []. | Short Name: | Maspardin |
