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TSC2 gene

TSC complex subunit 2

Key facts

Official symbol
TSC2
Full name
TSC2
Chromosome
16
Map location
16p13.3
Organism
Homo sapiens
NCBI Gene ID
7249
Also known as
LAM, PPP1R160, TSC4

Function summary

This gene is a tumor suppressor gene that encodes the growth inhibitory protein tuberin. Tuberin interacts with hamartin to form the TSC protein complex which functions in the control of cell growth. This TSC protein complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022].

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Data source: NCBI Gene · alsesAI Gene Library