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簡(jiǎn)要描述:Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq].
產(chǎn)品型號(hào):bs-3586R
廠商性質(zhì):生產(chǎn)廠家
更新時(shí)間:2025-02-26
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