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Spastic paraplegia type 21 (SPG21), also known as maspardin, is a member of the α/β hydrolase fold protein superfamily.1 It is ubiquitously expressed and localizes to the cytoplasm and endolysosomes.1,2 SPG21 contains N- and C-terminal α-helices but lacks the catalytic triad typical of most α/β hydrolases, indicating it is enzymatically inactive.1 Spg21 knockout induces progressive hind limb dysfunction and increased cortical neuron axonal branching in mice.3 Mutations in SPG21 are associated with mast syndrome, a complex form of hereditary spastic paraplegia that presents with spastic paraparesis, dementia, and other CNS abnormalities.4 Cayman’s SPG21 (human, recombinant) protein consists of 533 amino acids and has a calculated molecular weight of 61 kDa.
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1. The hereditary spastic paraplegia type 21 (SPG21) protein is a RAB7A effector that promotes noncanonical mTORC1-
2. SPG21, a potential oncogene targeted by miR-
3. Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons. Neurogenetics 11(4), 369-378 (2010).
4. Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am. J. Hum. Genet. 73(5), 1147-1156 (2003).