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MedlinePlus Health Topics
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MEDLINEPLUS/C1420344
http://purl.bioontology.org/ontology/MEDLINEPLUS/C1420344
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|---|---|
| Preferred Name | SPTCS_HUMAN |
| Definitions |
The SPG11 gene provides instructions for making the protein spatacsin. Spatacsin is active (expressed) throughout the nervous system, although its exact function is unknown. Researchers speculate that it may help control the activity of particular genes (gene expression) or play a role in the transport (trafficking) of proteins. Spatacsin may also be involved in the maintenance of axons, which are specialized extensions of nerve cells (neurons) that transmit impulses throughout the nervous system.
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| Synonyms |
SPG11
SPG11 vesicle trafficking associated, spatacsin
KIAA1840
FLJ21439
spastic paraplegia 11 (autosomal recessive)
SPATACSIN
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | The SPG11 gene provides instructions for making the protein spatacsin. Spatacsin is active (expressed) throughout the nervous system, although its exact function is unknown. Researchers speculate that it may help control the activity of particular genes (gene expression) or play a role in the transport (trafficking) of proteins. Spatacsin may also be involved in the maintenance of axons, which are specialized extensions of nerve cells (neurons) that transmit impulses throughout the nervous system. |
|---|---|
| altLabel |
SPG11
SPG11 vesicle trafficking associated, spatacsin
KIAA1840
FLJ21439
spastic paraplegia 11 (autosomal recessive)
SPATACSIN
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| prefLabel | SPTCS_HUMAN
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| DB XR ID | NCBI Gene:80208~OMIM:610844
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| Has associated condition | |
| type | |
| tui | T028
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| notation | C1420344
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| Semantic type UMLS property | |
| cui | C1420344
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