An Entity of Type: protein, from Named Graph: http://dbpedia.org, within Data Space: dbpedia.org

Tuberous sclerosis proteins 1 and 2, also known as TSC1 (hamartin) and TSC2 (tuberin), form a protein-complex. The encoding two genes are TSC1 and TSC2. The complex is known as a tumor suppressor. Mutations in these genes can cause tuberous sclerosis complex. Depending on the grade of the disease, intellectual disability, epilepsy and tumors of the skin, retina, heart, kidney and the central nervous system can be symptoms.

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dbo:abstract
  • Tuberous sclerosis proteins 1 and 2, also known as TSC1 (hamartin) and TSC2 (tuberin), form a protein-complex. The encoding two genes are TSC1 and TSC2. The complex is known as a tumor suppressor. Mutations in these genes can cause tuberous sclerosis complex. Depending on the grade of the disease, intellectual disability, epilepsy and tumors of the skin, retina, heart, kidney and the central nervous system can be symptoms. (en)
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  • p
  • q
dbo:band
  • 34
  • 13.3
dbo:chromosome
  • 16
  • 9
dbo:entrezgene
  • 7249
  • 7248
dbo:hgncid
  • 12362
  • 12363
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  • 191092 (xsd:integer)
  • 605284 (xsd:integer)
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  • NM_000368
  • NM_000548
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  • TSC
  • TSC1
  • TSC2
  • TSC4
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  • P49815
  • Q92574
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  • TSC (en)
  • TSC4 (en)
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  • 16 (xsd:integer)
dbp:entrezgene
  • 7248 (xsd:integer)
  • 7249 (xsd:integer)
dbp:hgncid
  • 12362 (xsd:integer)
  • 12363 (xsd:integer)
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  • 191092 (xsd:integer)
  • 605284 (xsd:integer)
dbp:refseq
  • NM_000368 (en)
  • NM_000548 (en)
dbp:symbol
dbp:uniprot
  • P49815 (en)
  • Q92574 (en)
dbp:wikiPageUsesTemplate
dcterms:subject
rdf:type
rdfs:comment
  • Tuberous sclerosis proteins 1 and 2, also known as TSC1 (hamartin) and TSC2 (tuberin), form a protein-complex. The encoding two genes are TSC1 and TSC2. The complex is known as a tumor suppressor. Mutations in these genes can cause tuberous sclerosis complex. Depending on the grade of the disease, intellectual disability, epilepsy and tumors of the skin, retina, heart, kidney and the central nervous system can be symptoms. (en)
rdfs:label
  • Tuberous sclerosis protein (en)
owl:sameAs
prov:wasDerivedFrom
foaf:isPrimaryTopicOf
foaf:name
  • tuberous sclerosis 1 (en)
  • tuberous sclerosis 2 (en)
is dbo:wikiPageWikiLink of
is foaf:primaryTopic of
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