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The protein encoded by SPG21 was identified by a two-hybrid screen using CD4 as the bait.
Showing 10 out of 17 products:
HBV X gene enhanced SPG21 gene promoter activity, SPG21 mRNA expression and SPG21 protein production in HepG2 cells in a dose-dependent manner.
frameshift results in the premature termination of the encoded product, which is designated "maspardin" (Mast syndrome, spastic paraplegia, autosomal recessive with dementia)
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 (zeige ALDH16A1 Proteine).
Study showed that the loss of maspardin attenuates the growth, maturation, and axonal branching of cortical neurons to promote progressive neuronal dysfunction; impairment of sensory motor neurons in SPG21-/- mice; and that SPG21-/- cortical neurons failed to respond to EGF (zeige EGF Proteine)-induced growth and maturation, which is confirmed by the attenuated expression of a subset of EGFR (zeige EGFR Proteine) target genes
Mast syndrome gene SPG21 in mice has a role in hind limb function and axon branching in cultured cortical neurons
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.
acid cluster protein 33
, spastic paraplegia 21 autosomal recessive Mast syndrome protein homolog
, spastic paraplegia 21
, spastic paraplegia 21 homolog
, spastic paraplegia 21, maspardin (autosomal recessive, Mast syndrome)
, spastic paraplegia 21 (autosomal recessive, Mast syndrome)