Tuberous sclerosis protein
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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.
Quick Facts Identifiers, Symbol ...
tuberous sclerosis 1 | |||||||
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Identifiers | |||||||
Symbol | TSC1 | ||||||
Alt. symbols | TSC | ||||||
NCBI gene | 7248 | ||||||
HGNC | 12362 | ||||||
OMIM | 605284 | ||||||
RefSeq | NM_000368 | ||||||
UniProt | Q92574 | ||||||
Other data | |||||||
Locus | Chr. 9 q34 | ||||||
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Quick Facts Identifiers, Symbol ...
tuberous sclerosis 2 | |||||||
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Identifiers | |||||||
Symbol | TSC2 | ||||||
Alt. symbols | TSC4 | ||||||
NCBI gene | 7249 | ||||||
HGNC | 12363 | ||||||
OMIM | 191092 | ||||||
RefSeq | NM_000548 | ||||||
UniProt | P49815 | ||||||
Other data | |||||||
Locus | Chr. 16 p13.3 | ||||||
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