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The protein encoded by SPG11 is a potential transmembrane protein that is phosphorylated upon DNA damage. Additionally we are shipping SPG11 Antibodies (15) and and many more products for this protein.
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Study provides evidence that SPG11 is implicated in axonal maintenance and cargo trafficking.
We identified two novel compound heterozygous mutations in SPG11 in 2 affected individuals with autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum
a novel homozygous mutation in the splice site donor of intron 30 (c.5866+1G>A) in consanguineous Japanese SPG11 siblings showing late-onset spastic paraplegia (whole-exome sequencing)
SPG11 is the causative gene of a wide spectrum of clinical features, including autosomal recessive axonal Charcot-Marie-Tooth disease. 1
novel compound heterozygous mutations in SPG11 are associated with HSP and lower motor neuron involvement, mild cerebellar signs and dysgenesis of the corpus callosum
SPG11 mutation has been identified in a Turkish familial hypobetalipoproteinemia family with hereditary spastic paraplegia.
spastizin (show ZFYVE26 ELISA Kits) and spatacsin were essential components for the initiation of lysosomal tubulation. Together, these results link dysfunction of the autophagy/lysosomal biogenesis machinery to neurodegeneration.
A novel homozygous nonsense mutation in exon 15 of the SPG11 gene (c.2678G>A; p.W893X) found in two Spanish siblings with a complicated forms of hereditary spastic paraplegia.
widespread accumulation of spatacsin observed in pathologic alpha-synuclein (show SNCA ELISA Kits)-containing inclusions suggests that spatacsin may be involved in the pathogenesis of alpha-synucleinopathies
This study identified novel compound heterozygous mutations in the SPG11 gene of the patients as follows: a nonsense mutation c.6856C>T (p.R2286X) in exon 38 and a deletion mutation c.2863delG (p.Glu955Lysfs*8) in exon 16.
The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene.
spastic paraplegia 11 protein homolog
, colorectal carcinoma-associated protein
, spastic paraplegia 11 protein