TSC1

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Tuberous sclerosis 1
Identifiers
Symbols TSC1 ; LAM; TSC
External IDs OMIM605284 MGI1929183 HomoloGene314 GeneCards: TSC1 Gene
RNA expression pattern
File:PBB GE TSC1 209390 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 7248 64930
Ensembl ENSG00000165699 ENSMUSG00000026812
UniProt Q92574 Q9EP53
RefSeq (mRNA) NM_000368 NM_001289575
RefSeq (protein) NP_000359 NP_001276504
Location (UCSC) Chr 9:
132.89 – 132.94 Mb
Chr 2:
28.64 – 28.69 Mb
PubMed search [1] [2]

Hamartin, also known as tuberous sclerosis 1, is a protein that in humans is encoded by the TSC1 gene.[1]

Function

This peripheral membrane protein was implicated as a tumor suppressor. It forms a complex with TSC2 that regulates mTORC1 signaling and may be also involved in vesicular transport and docking.

Clinical significance

Defects in this gene may cause tuberous sclerosis, due to a functional impairment of the hamartin-tuberin complex.[citation needed] Defects in TSC1 may also be a cause of focal cortical dysplasia.[citation needed] TSC1 may be involved in protecting brain neurons in the CA3 region of the hippocampus from the effects of stroke.[2]

Interactions

TSC1 has been shown to interact with:

See also

References

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Further reading

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External links