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- 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.