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Spastic paraplegia 21

MAST
The protein encoded by this gene was identified by a two-hybrid screen using CD4 as the bait. It binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. At least three different transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Papers on MAST
[Effect of hepatitis B virus X gene on the expression of spastic paraplegia 21].
GeneRIF
Hu et al., Ningbo, China. In Zhonghua Gan Zang Bing Za Zhi, 2010
HBV X gene enhanced SPG21 gene promoter activity, SPG21 mRNA expression and SPG21 protein production in HepG2 cells in a dose-dependent manner.
Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons.
GeneRIF
Hanna et al., Stockholm, Sweden. In Neurogenetics, 2010
Mast syndrome gene SPG21 in mice has a role in hind limb function and axon branching in cultured cortical neurons
Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1.
GeneRIF
Blackstone et al., United States. In Neurogenetics, 2009
Data report that maspardin localizes prominently to cytoplasm as well as to membranes, possibly at trans-Golgi network/late endosomal compartments, and that maspardin interacts with the aldehyde dehydrogenase ALDH16A1.
Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.
GeneRIF
Crosby et al., London, United Kingdom. In Am J Hum Genet, 2003
frameshift results in the premature termination of the encoded product, which is designated "maspardin" (Mast syndrome, spastic paraplegia, autosomal recessive with dementia)
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