TSC1
From Infogalactic: the planetary knowledge core
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Hamartin, also known as tuberous sclerosis 1, is a protein that in humans is encoded by the TSC1 gene.[1]
Contents
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:
- AKT1,[3][4]
- NEFL,[5]
- PLK1,[6] and
- TSC2.[4][7][8][9][10][11][12][13][14][15][16][17][18][6][19][20][21][22][23]
See also
References
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Further reading
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