This website uses cookies to ensure you get the best experience on our website.
- Table of Contents
Facts about Spatacsin.
Human | |
---|---|
Gene Name: | SPG11 |
Uniprot: | Q96JI7 |
Entrez: | 80208 |
Belongs to: |
---|
No superfamily |
Colorectal carcinoma-associated protein; FLJ21439spatacsin; KIAA1840DKFZp762B1512; spastic paraplegia 11 (autosomal recessive); Spastic paraplegia 11 protein
Mass (kDA):
278.868 kDA
Human | |
---|---|
Location: | 15q21.1 |
Sequence: | 15; NC_000015.10 (44562696..44663678, complement) |
Expressed in all structures of brain, with a high expression in cerebellum. Expressed in cortical projection neurons.
Cytoplasm, cytosol. Nucleus. Cell projection, axon. Cell projection, dendrite. Mainly cytoplasmic.
PMID: 17322883 by Stevanin G., et al. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
PMID: 18079167 by Stevanin G., et al. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.